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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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255 hot topic(s) found with the query "Sickle cell"

Sickle Cell Data Collection Program
CDC, March 2023 Brand (Posted: Mar-20-2023 2PM)

This notice of funding opportunity allows recipients to gather unique data and conduct in-depth analyses to inform their sickle cell disease (SCD) efforts and to compare and contrast SCD-related health care and health outcomes across states and across population groups. Each state has a unique demographic makeup, health disparities, distinct health care policies, and challenges related to access to care; all of these factors play a large role in the outcomes and experiences of individuals with SCD.

Sickle Cell Disease Newborn Screening—An Audit of a Twin Island State Pilot Program
SB Jarvis et al, IJNS, March 2023 (Posted: Mar-09-2023 1PM)

Why genetic engineering experts are putting a spotlight on Victoria Gray's case
R Stein, NPR, March 7, 2023 (Posted: Mar-07-2023 6PM)

Some of the world's most celebrated experts on genetic engineering are in London this week to debate the promise and the peril of gene editing. Yesterday, the summit put the spotlight on one person, Victoria Gray. The Mississippi woman was the first person with sickle cell disease to be treated with a gene-editing technique known as CRISPR.

Sickle Cell Cure Brings Mix of Anxiety and Hope
G Kolata, NY Times, January 17, 2023 (Posted: Jan-18-2023 0PM)

Some people who have long lived with the disease say they worry about living as a healthy person, while others are concerned about the obstacles to getting treatment. Sickle cell disease affects at least 100,000 people in the United States and millions worldwide. It mostly strikes Black and Hispanic or Latino people, but it also occurs in people with Mediterranean and Indian ancestors. People with the disease face searing pain, stroke, damage to tissues and organs and often death at an early age.

Human genetic diversity alters off-target outcomes of therapeutic gene editing.
Cancellieri Samuele et al. Nature genetics 2022 12 (Posted: Dec-16-2022 8AM)

CRISPR gene editing holds great promise to modify DNA sequences in somatic cells to treat disease. However, standard computational and biochemical methods to predict off-target potential focus on reference genomes. We developed an efficient tool called CRISPRme that considers single-nucleotide polymorphism (SNP) and indel genetic variants to nominate and prioritize off-target sites. We tested the software with a BCL11A enhancer targeting guide RNA (gRNA) showing promise in clinical trials for sickle cell disease and ß-thalassemia

Transcript for Vital Signs Telebriefing: Children with sickle cell anemia are at risk for stroke and other complications
CDC, October 2022 Brand (Posted: Oct-13-2022 6PM)

Today’s Vital Signs highlights the disheartening fact that many young people are not receiving potentially life-saving screenings and treatment for this disease. Sickle cell disease, sickle cell anemia, the most common form of sickle cell disease, is a leading cause of stroke in children and teens. Yet as this report points out, less than half of children two to 16 years of age who were enrolled in Medicaid in 2019 were receiving their recommended annual screening to assess their risk of having a stroke.

Africa must participate in finding a gene therapy cure for sickle-cell disease.
Moshi Grace et al. Nature medicine 2022 10 (Posted: Oct-08-2022 7AM)

SCD is a disease of global public heath significance, has a dismal effect on the quality of life of many people, and it is a major drain on human and health resources. Scientific collaboration is needed to prioritize treatments that are cost-effective in Africa, where most cases exist. For these interventions to be implemented in Africa, several barriers must be overcome. Barriers include under-funded healthcare systems, lack of appropriate infrastructure, and lack of manufacturing practice facilities.

Sickle Cell Disease and Gene Therapy — Patient and Physician Perspectives
NEJM, Youtube video, Septenber 2022 (Posted: Oct-03-2022 6AM)

In this short documentary video from the New England Journal of Medicine (NEJM), patients and physicians partner both to highlight the experience of living with sickle cell disease and to discuss the pathophysiology of the disease and new treatment strategies, including gene therapy.

Sickle Cell Disease and Gene Therapy - Patient and Physician Perspectives.
DeBaun Michael et al. The New England journal of medicine 2022 9 (13) e28 (Posted: Sep-29-2022 8AM)

In this short documentary video, patients and physicians partner both to highlight the experience of living with sickle cell disease and to discuss the pathophysiology of the disease and new treatment strategies, including gene therapy. Patients share their own stories of interactions with the health care system and explore the challenging topics of racial disparity and health equity. Physicians express a cautious optimism as they review the risks and benefits of gene therapy.

Vital Signs: Use of Recommended Health Care Measures to Prevent Selected Complications of Sickle Cell Anemia in Children and Adolescents — Selected U.S. States, 2019
LA Schieve et al, CDC, MMWR, September 20, 2022 (Posted: Sep-21-2022 7AM)

Sickle cell anemia (SCA), which primarily affects Black or African American persons, is associated with severe complications and reduced life expectancy. Among children and adolescents with SCA, transcranial Doppler (TCD) ultrasound screening identifies elevated risk for stroke, and hydroxyurea therapy can reduce the occurrence of several life-threatening complications. During 2019, fewer than one half of Medicaid enrollees aged 2–16 years with SCA had a TCD screen. Fewer than one half of children aged 2–9 years used hydroxyurea and approximately one half of those aged 10–16 years used hydroxyurea.

Treatment of Genetic Diseases With CRISPR Genome Editing
MJ Kan et al, JAMA, September 13, 2022 (Posted: Sep-14-2022 3AM)

Ongoing clinical trials use CRISPR for somatic cell genome editing to treat hereditary diseases or cancer. In these studies, cells are either removed and edited in tissue culture and then readministered to the patient (ex vivo), or genome editors are packaged within viral vectors or lipid nanoparticles and given intravenously to home to specific tissues (in vivo). Ex vivo therapies have focused on blood disorders, including at least 6 trials aiming to cure sickle cell disease (SCD) or transfusion-dependent ß-thalassemia (TDT).

National Sickle Cell Awareness Month
HHS Minority Health, September 2022 Brand (Posted: Sep-02-2022 8AM)

September is National Sickle Cell Awareness Month, a time to recognize the perseverance of patients living with sickle cell disease (SCD) and to recommit ourselves to improving the quality of life and health outcomes for all individuals living with SCD. Learn how federal agencies are working to put an end to SCD.

Bringing Sickle-Cell Treatments to Children in Sub-Saharan Africa.
Zhou Albert E et al. The New England journal of medicine 2022 8 (6) 488-491 (Posted: Aug-11-2022 7AM)

A diagnosis of sickle-cell disease (SCD) portends a lifetime of crises marked by substantial pain, infections, anemia, and increased risk of stroke. Sub-Saharan Africa is home to the majority of people living with SCD. About 236,000 babies are born with SCD in sub-Saharan Africa each year (more than 80 times as many as in the United States), and up to 90% will die during childhood, typically before their fifth birthday. In the United States, by contrast, people with SCD often live into their 40s or beyond. An important contributor to this disparity is differential access to hydroxyurea, a chemotherapeutic agent that reduces the frequency of sickle-cell crises and prolongs survival.

Breaking Down Barriers to ED Care for People with SCD
CDC, May 2022 Brand (Posted: Jun-07-2022 11AM)

People with sickle cell disease (SCD) frequently visit the emergency department (ED) to seek care and manage symptoms related to their disease. Many people with SCD have reported unique barriers and challenges, such as long wait times and lack of provider knowledge related to SCD, when seeking treatment in emergency care settings. Information on how you and your colleagues is detailed below. You can also use this toolkit to find more resources from ACEP and CDC on how to improve treatment for people with SCD who visit emergency care settings.

Will gene therapy comeback last?
H Ledford, Nature, May 31, 2022 (Posted: Jun-01-2022 7AM)

After years of disappointment, gene-therapy research has undergone a renaissance, with several high-profile drug approvals and a string of promising clinical-trial results against devastating genetic diseases, including sickle-cell disease and some blood cancers. But as researchers attempt to develop treatments for new conditions, they are also trying to work out how to cope with worrying signs that immune responses to the therapies could hinder their efforts — and generate dangerous side effects.

Changing our DNA: 'The age of human therapeutic gene editing is here'
S LaMotte, CNN, May 31, 2022 (Posted: May-31-2022 8AM)

The arrival of CRISPR systems in the 1990s and specifically CRISPR-Cas-9 in 2013 heralded a new, more elegant way to edit genes. CRISPR uses what is called guide RNA to get the Cas-9 enzyme to a more precise spot on the DNA strand to make the cut. After years of vetting, the US Food and Drug Administration approved CRISPR-Cas-9 in 2021 for use in human clinical trials for sickle cell disease.

Researchers identify the high costs of living with sickle cell disease Potential curative therapies may help reduce the burden, but are also costly.
NIH, May 16, 2022 (Posted: May-16-2022 10AM)

Americans ages 64 and younger with commercial health insurance who live with sickle cell disease (SCD) pay almost four times more in out-of-pocket medical costs over their lifetimes, a total of $44,000, compared to people living without the disease. And insurers pay $1.7 million on average for each person living with SCD, according to new research supported by the National Institutes of Health. The healthcare spending analysis underscored the significant financial toll that sickle cell disease, an inherited blood condition, has on patients, their families, and the healthcare system.

Biologic and Clinical Efficacy of LentiGlobin for Sickle Cell Disease.
Kanter Julie et al. The New England journal of medicine 2021 12 (7) 617-628 (Posted: Feb-17-2022 8AM)

In this ongoing phase 1–2 study, one-time treatment with LentiGlobin resulted in sustained production of HbAT87Q in most red cells, leading to reduced hemolysis and complete resolution of severe vaso-occlusive events.

Sickle Cell Math Is Brutally Simple, but Not Widely Taught
G Kolata, NY Times, December 28, 2021 (Posted: Dec-31-2021 7AM)

A person who inherits the mutated gene from just one parent has what is called sickle cell trait, not the disease itself. But if both partners in a couple have the trait, there’s a one in four chance that their baby will inherit it from both of them and have sickle cell disease. There is no routine testing of adults for the trait. Medical science is fast approaching a cure for the disease — one that would almost certainly cost more than $1 million per person — but the American medical system does not ensure that parents-to-be get a simple, inexpensive blood test that would inform them if they carry the sickle cell trait.

First sickle cell patient treated with CRISPR gene-editing still thriving
R Stein, NPR, December 31, 2021 (Posted: Dec-31-2021 7AM)

Real Stories from People Living with Sickle Cell Disease: Rae Blaylark
CDC, November 2021 Brand (Posted: Nov-14-2021 6AM)

Rae Blaylark is the founder and Executive Director of the Sickle Cell Foundation of Minnesota; a certified community health worker; a certified hemoglobinopathy (red blood cell disorders) counselor; and the sickle cell patient family health advocate at the local children’s hospital, but her first and most important role is as a mother of a young adult living with sickle cell disease (SCD).

Improving Outcomes for Patients With Sickle Cell Disease in the United States Making the Case for More Resources, Surveillance, and Longitudinal Data
J Kanter et al, JAMA Health Forum, October 29,2021 (Posted: Nov-02-2021 6PM)

Although considered a rare disease with fewer than 200?000 cases annually in the US, sickle cell disease (SCD) is the most common and clinically significant inherited blood disorder in the US and worldwide. Despite the relatively high prevalence of this rare disease, there is a paucity of longitudinal data available to evaluate access to care or to identify quality metrics. This review discusses why systematic data collection for SCD through population-wide surveillance programs can help to facilitate progress in treatment. It also explores the importance of having both a longitudinal clinical registry and a national surveillance program to improve resource utilization, clinical outcomes, and provide an equitable foundation for care.

NICE recommends first treatment in two decades for sickle cell disease
NICE, October 5, 2021 (Posted: Oct-05-2021 6AM)

For the first time in 20 years, a new therapy for sickle cell disease is to be made available on the NHS. Crizanlizumab (Adakveo, Novartis) is recommended by NICE as a treatment option for preventing recurrent sickle cell crises in people aged 16 or over. Clinical evidence suggests that people treated with crizanlizumab have significantly fewer sickle cell crises in a year than those receiving other standard treatment options.

Impact of COVID 19 on the quality of life (QoL) of patients living with Sickle Cell Disorder (SCD) in Lagos Nigeria
A Akinsete et al, MEDRXIV, October 3, 2021 (Posted: Oct-04-2021 6AM)

COVID-19 and Sickle Cell Disease: Frequently Asked Questions
American Society for Hematology, 2021 (Posted: Sep-03-2021 7AM)

How do people with sickle cell disease (SCD) do with COVID-19? How should I evaluate respiratory symptoms in children and adults with an active COVID-19 infection? Should I change my use of exchange transfusion for neurological acute symptoms suggesting a stroke or transient ischemic attack? Should I change my use of exchange transfusion or regular blood transfusion for primary and secondary stroke prevention, secondary prevention of ACS, pain or priapism? My patient usually receives antigen-matched red cells. Should I use non-matched units if there is a blood shortage?

Health Equity and Genetic Disorders
CDC, August 2021 Brand (Posted: Sep-01-2021 7AM)

Public health efforts to achieve health equity need to include people with genetic disorders. Thousands of inherited genetic disorders affect millions of people in the United States. Genetic disorders include both single-gene disorders, such as cystic fibrosis and sickle cell disease, and conditions that make people more likely to develop common chronic diseases, such as hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia.

Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action
NASEM Report, August 2021 (Posted: Aug-19-2021 8AM)

This report explores the current guidelines and best practices for the care of patients with SCD and recommends priorities for programs, policies, and research. It also discusses limitations and opportunities for developing national SCD patient registries and surveillance systems, barriers in the healthcare sector associated with SCD and SCT, and the role of patient advocacy and community engagement groups.

Sickle-cell anemia gene therapy
O Alam, Nature Genetics, August 6, 2021 (Posted: Aug-09-2021 0PM)

A new study demonstrates durable editing of the sickle-cell disease allele in the ß-globin gene into a non-pathogenic variant in human-patient hematopoietic stem and progenitor cells that were transplanted into mice. Editing successfully mediated phenotypic rescue, thus suggesting a potential one-time ABE treatment for sickle-cell disease.

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Gregg Anthony R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 7 (Posted: Jul-22-2021 7AM)

Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay-Sachs disease in the Ashkenazi Jewish population; sickle cell disease in Black individuals). Cystic fibrosis was the first medical condition for which panethnic screening was recommended, followed by spinal muscular atrophy. Next-generation sequencing allows low cost and high throughput identification of sequence variants across many genes simultaneously.

Innovating Sickle Cell Disease education models
NHLBI, July 2021 Brand (Posted: Jul-21-2021 7AM)

As he played the game, he won a badge each time he answered a question right. But happily, there were no wrong answers. That’s because the game’s goal is to explain – in simple terms – what many don’t know: that SCD affects more than 100,000 people in the U.S. and millions of others worldwide. That it is more common among Black children and adults.

How Designer DNA Is Changing Medicine - A genomic revolution is poised to cure sickle cell and other genetic diseases
C Barber, Scientific American, July 17, 2021 (Posted: Jul-19-2021 6AM)

The next-generation technology, gene editing, is another level altogether. Gene editing enables scientists to precisely target abnormal genes of many organisms (bacteria, plants, animals), snip the DNA, then remove, replace or add new DNA at the incision site. “Imagine you have a car with a flat tire. Gene therapy is taking a fifth wheel and putting it somewhere on the car and hoping it runs. Gene editing is repairing the flat.”

Treatment of Acute Pain in Adults With Sickle Cell Disease in an Infusion Center Versus the Emergency Department : A Multicenter Prospective Cohort Study.
Lanzkron Sophie et al. Annals of internal medicine 2021 7 (Posted: Jul-07-2021 8AM)

Patients with sickle cell disease (SCD) have vaso-occlusive crises (VOCs). Infusion centers (ICs) are alternatives to emergency department (ED) care and may improve patient outcomes. This prospective cohort study in 4 US sites recruited 483 adults with SCD and followed up for 18 months. The study found that in adults with SCD having a VOC, treatment in an IC is associated with substantially better outcomes than treatment in an ED.

For people in sickle cell crisis, specialized infusion centers offer far better care than the ER, study finds
A Joseph, StatNews, July 5, 2021 (Posted: Jul-07-2021 7AM)

People with sickle cell disease who were experiencing acute pain crises received far better care at specialized infusion centers than emergency departments, with faster access to pain medication and lower rates of hospital admissions. A new study highlights how the barriers to quality treatment in emergency rooms can lead to worse outcomes for patients with sickle cell disease.

Summer Camp, A Place Where A Kid Can Just Be A Kid… Even If He Or She Has Sickle Cell Disease
CDC, June 2021 Brand (Posted: Jun-17-2021 9AM)

Summer camp can positively affect any child’s mental and physical health, but perhaps even more so if the child lives with a chronic medical condition such as sickle cell disease (SCD). For these children, the summer camp experience can provide support and education and reduce the social isolation so often experienced by those with a challenging health condition.

The Bloodline Newsletter
CDC, June 2021 Brand (Posted: Jun-12-2021 7AM)

The Bloodline is a quarterly newsletter that provides updates about the SCDC program. Subscribe to the newsletter to stay updated on the SCDC program’s health communications activities, data, presentations, and more.

On That Edge of Fear’: One Woman’s Struggle With Sickle Cell Pain
J Eligon, NY Times, May 30, 2021 (Posted: May-30-2021 10AM)

People with sickle cell, a rare, inherited blood disorder caused by a mutation in a single gene, typically endure episodes of debilitating pain as well as chronic pain. Roughly 100,000 Americans and millions of people globally, mostly in Africa, have the disease. Red blood cells that carry oxygen become stiff and curved like crescent moons, clogging blood vessels and starving the body of oxygen.

These Sisters With Sickle Cell Had Devastating, and Preventable, Strokes
G Kolata, NY Times, May 23, 2021 (Posted: May-24-2021 8AM)

This is a paradoxical moment for people who have this painful, deadly disease. For the first time, gene therapies that have advanced through clinical trials offer the real possibility of a cure. But Dr. Francis Collins, director of the National Institutes of Health, said the lack of attention paid to sickle cell historically “is one more reflection of the fact that we do not have equity in our country.”

Steps to Better Health for People with Sickle Cell Disease Toolkit
CDC, April 2021 Brand (Posted: May-22-2021 11AM)

In partnership with the American Society of Hematology (ASH), CDC has created health guidance materials for people with sickle cell disease (SCD) based on the ASH Clinical Practice Guidelines on Sickle Cell Disease. These materials include common complications of SCD and steps to take for better health.

Effect of Poloxamer 188 vs Placebo on Painful Vaso-Occlusive Episodes in Children and Adults With Sickle Cell Disease: A Randomized Clinical Trial.
Casella James F et al. JAMA 2021 4 (15) 1513-1523 (Posted: Apr-26-2021 8AM)

In this randomized clinical trial that included 388 children and adults with sickle cell disease, treatment with poloxamer 188 vs placebo resulted in mean time to last dose of parenteral opioids during vaso-occlusive episodes of 81.8 vs 77.8 hours, a difference that was not statistically significant.

Gene Therapy for Sickle Cell Disease-A Debt to Be Paid.
Ozuah Philip O et al. JAMA pediatrics 2021 3 (Posted: Mar-23-2021 8AM)

Sickle cell disease, caused by a point mutation in DNA, a single amino acid substitution in a single gene, has long been recognized as a good target for gene therapy. The irony here is inescapable—some of the most underserved patients in the world are ideal candidates for the most advanced medical treatment yet conceived.

A Budget Impact Analysis of Gene Therapy for Sickle Cell Disease: The Medicaid Perspective.
DeMartino Patrick et al. JAMA pediatrics 2021 3 (Posted: Mar-23-2021 8AM)

An estimated 5464 Medicaid enrollees would be eligible for the gene therapy nationally, with 2315 individuals in the 10 Medicaid programs of interest (16 per 100 000 enrollees). The model projected a mean 1-year budget impact of $29.96 million per state Medicaid program in the sample ($1.91 per member per month). A 5-year annuity payment reduced the short-term budget impact.This study suggests that a gene therapy for severe sickle cell disease is likely to produce a considerable budget impact for many Medicaid plans while potentially offering substantial benefit to patients.

Sickle Cell Treatment Not Linked to Cancer, Researchers Say
G Kolata, NY Times, March 10, 2021 (Posted: Mar-12-2021 7AM)

Just a few weeks after a promising gene therapy for sickle cell disease seemed to have hit a roadblock, prospects for the treatment now look better. Preliminary data suggesting that it might cause cancer have not held up.

Gene therapy trials for sickle cell disease halted after two patients develop cancer
J Kaiser, Science, February 16, 2021 (Posted: Feb-22-2021 4PM)

A company has stopped its clinical studies of a promising gene therapy for the blood disorder sickle cell disease after two people who participated developed leukemia-like cancer. The company is now investigating whether a virus it uses to deliver a therapeutic gene caused the cancers, reviving old concerns about the risks of this approach.

Induction of Fetal Hemoglobin by Gene Therapy
MC Walters, NEJM, January 21, 2021 (Posted: Jan-21-2021 1PM)

The topic of equitable access to novel therapies with curative intent for sickle cell disease commingles clinical, translational, and implementation science. The development of disease-modifying therapies for sickle cell disease was stunted for many years.

Host genetic effects in pneumonia.
Chen Hung-Hsin et al. American journal of human genetics 2020 Dec (Posted: Jan-08-2021 9AM)

We performed GWASs of pneumonia susceptibility and severity. Two regions of large effect were identified: the CFTR locus in EA and HBB in AA.(Mutations in these genes cause cystic fibrosis (CF) and sickle cell disease (SCD), respectively. After removing individuals diagnosed with CF and SCD, we uncovered an additional association in R3HCC1L. This variant was also validated in GWASs of COVID-19 hospitalization and lung function.

Association of Sickle Cell Trait With Incidence of Coronary Heart Disease Among African American Individuals
HI Hyacinth et al, JAMA Network Open. January 5, 2021 (Posted: Jan-06-2021 8AM)

In this cohort study of 23?197 African American individuals in 5 cardiovascular epidemiologic studies, sickle cell trait was not associated with increased risk of myocardial infarction or coronary heart disease among African American individuals

Is sickle cell disease a risk factor for severe COVID-19 : a multicenter national retrospective cohort
A Abdulrahman et al, MEDRXIV, January 4, 2021 (Posted: Jan-04-2021 9AM)

CRISPR gene therapy shows promise against blood diseases
H Ledford, Nature News, December 10, 2020 (Posted: Dec-09-2020 10AM)

Researchers report early successes using genetic approaches to treat sickle-cell anemia and ß-thalassemia. The CRIPSR and RNA approaches take a different tack. They seek to boost expression of a form of hemoglobin that is normally produced in the fetus and then switched off shortly after birth.

SCDC Fact Sheets
CDC, 2020 Brand (Posted: Nov-18-2020 10AM)

CDC has developed free sickle cell disease fact sheets for several audiences, including patients and their families; partners and public health professionals; and healthcare providers.

Coronavirus Disease among Persons with Sickle Cell Disease, United States, March 20-May 21, 2020.
Panepinto Julie A et al. Emerging infectious diseases 2020 10 (10) 2473-2476 (Posted: Oct-08-2020 11AM)

Sickle cell disease (SCD) disproportionately affects Black or African American persons in the United States and can cause multisystem organ damage and reduced lifespan. Among 178 persons with SCD in the United States who were reported to an SCD–coronavirus disease case registry, 122 (69%) were hospitalized and 13 (7%) died.

Did You Know Sickle Cell Has Many Faces?
CDC, September 2020 Brand (Posted: Sep-16-2020 6AM)

Did you know that sickle cell disease (SCD) affects millions of people throughout the world? View “Sickle Cell Has Many Faces” Videos-Watch people with SCD of diverse backgrounds share that SCD can affect anyone, no matter what you look like or where your family comes from.

Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action
NASEM event, September 10, 2020 (Posted: Sep-05-2020 11AM)

On September 10, 2020, join the National Academies of Sciences, Engineering, and Medicine for a webinar releasing a new report on sickle cell disease (SCD) in the U.S. and discussing a strategic plan and blueprint for improving care and outcomes for individuals with SCD.

When Actions Speak Louder Than Words - Racism and Sickle Cell Disease.
Power-Hays Alexandra et al. The New England journal of medicine 2020 Sep (Posted: Sep-04-2020 7AM)

The access to and delivery of high-quality health care for patients with SCD is disrupted by interpersonal racism. Too often patients with SCD simultaneously combat unbearable pain and racist attitudes expressed by health care workers. Despite inexorable pain, patients report getting dressed nicely before presenting to the emergency department in an attempt to avoid judgment and receive better care.

Portable sickle disease test could aid early detection in children
NHLBI, July 2020 Brand (Posted: Aug-12-2020 6AM)

A fast, low-cost portable test for sickle cell disease (SCD) that was developed could help detect the condition in children living in areas with low resources and get them early treatment that could save lives. About 20 million people globally have SCD, including 100,000 in the United States.

Association of Sickle Cell Trait with Risk and Mortality of COVID-19: Results from the UK Biobank
WK Resurrection et al, MEDRXIV, July 4, 2020 (Posted: Jul-05-2020 7AM)

Hydroxyurea Dose Escalation for Sickle Cell Anemia in Sub-Saharan Africa
CC John et al, NEJM, June 25, 2020 (Posted: Jun-25-2020 8AM)

Among children with sickle cell anemia in sub-Saharan Africa, hydroxyurea with dose escalation had superior clinical efficacy to that of fixed-dose hydroxyurea, with equivalent safety.

Automated screening of sickle cells using a smartphone-based microscope and deep learning
K de Haan et al, NPJ Digital Health, May 22, 2020 (Posted: May-23-2020 9AM)

We present a deep learning framework which can perform automatic screening of sickle cells in blood smears using a smartphone microscope. We blindly tested this mobile sickle cell detection method using blood smears from 96 unique patients that were imaged by our smartphone microscope, and achieved ~98% accuracy, with an area-under-the-curve of 0.998.

Development of the InCharge Health Mobile App to Improve Adherence to Hydroxyurea in Patients With Sickle Cell Disease: User-Centered Design Approach
NM ALberts et al, JMIR mHealth, May 2020 (Posted: May-15-2020 9AM)

This study aimed to design a mHealth intervention for individuals with SCD to improve adherence to hydroxyurea, using a user-centered design that was informed by specific barriers to hydroxyurea adherence and utilization in this population.

Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated With Research Productivity
F Farook et al, JAMA Network Open, March 27, 2020 (Posted: Mar-28-2020 8AM)

This cross-sectional study of research funding and outputs for cystic fibrosis and sickle cell disease found that expenditures were greater for cystic fibrosis compared with sickle cell disease. Significantly more research articles and drug approvals were found for cystic fibrosis compared with sickle cell disease.

The Prevalence of Sickle Cell Trait in Division I University Athletics Programs.
Hirschhorn Rebecca M et al. The Physician and sportsmedicine 2020 Mar (Posted: Mar-11-2020 8AM)

SickleInAfrica.
Makani Julie et al. The Lancet. Haematology 2020 Feb (2) e98-e99 (Posted: Feb-02-2020 9AM)

SickleinAfrica is a consortium set up to shape health policy in countriesthat bear the greatest burden of sickle cell disease worldwide. The countries selectedare characterised by high sickle cell disease prevalence, mortality and morbidity,and suboptimal use of interventions.

At 16, She’s a Pioneer in the Fight to Cure Sickle Cell Disease
NY Times, January 11, 2020 (Posted: Jan-12-2020 2PM)

For more than half a century, scientists have known the cause of sickle cell disease, a single mutation in a gene. Millions of people are affected globally, a vast majority of them Africans. Has gene therapy finally arrived? Helen Obando is the youngest person ever to get a gene therapy that scientists hope will cure the disease, which afflicts 100,000 Americans.

Should We Sequence the Genome of Every Newborn?
Scientific American Blog, December 2019 (Posted: Jan-04-2020 2PM)

Thankfully, we already have a model for how to do this: newborn screening programs such as those run by state departments of public health in the U.S., which test a drop of blood taken from each baby’s heel for several dozen conditions, including cystic fibrosis and sickle cell anemia.

Effort To Control Opioids In An ER Leaves Some Sickle Cell Patients In Pain
S Whitehead, NPR, January 2, 2020 (Posted: Jan-03-2020 9AM)

People with sickle cell disease aren't fueling the opioid problem, One study published in 2018 found that opioid use has remained stable among sickle cell patients over time, even as opioid use as risen in the U.S. generally. If anything, individuals with sickle cell disease have really been caught in the crossfire when it comes to this opioid epidemic.

A Young Mississippi Woman's Journey Through A Pioneering Gene-Editing Experiment
R Stein, NPR, December 25, 2019 (Posted: Dec-26-2019 7PM)

Doctors removed bone marrow cells from Gray's body, edited a gene inside them with CRISPR and infused the modified cells back into her system this summer. And it appears the cells are doing what scientists hoped — producing a protein that could alleviate the worst complications of sickle cell.

International Differences in Outpatient Pain Management: A Survey of Sickle Cell Disease.
El-Amin Nadirah et al. Journal of clinical medicine 2019 Dec 8(12) (Posted: Dec-18-2019 8AM)

US providers were more likely to prescribe opioids ( p < 0.001) and were more likely to be "very comfortable" prescribing opioids than non-US prescribers ( p < 0.001). US providers also tended to prescribe more tablets per patient of stronger opioids than non-US physicians

Comparative Effectiveness of a Web-Based Patient Decision Aid for Therapeutic Options for Sickle Cell Disease: Randomized Controlled Trial.
Krishnamurti Lakshmanan et al. Journal of medical Internet research 2019 Dec 21(12) e14462 (Posted: Dec-11-2019 9AM)

Finding a cure for sickle cell disease
J Makani, Nature Medicine, December 2019 (Posted: Dec-09-2019 9AM)

I have personally witnessed the excruciating painful episodes known as vaso-occlusive crises that result from sickled red blood cells obstructing circulation, and I have lost family members to this disease. I believe that through research, we will be able to improve the health of individuals with SCD.

Expensive treatments for genetic disorders are arriving. But who should foot the bill?
Nature, December 2019 (Posted: Dec-07-2019 7AM)

The majority of people with sickle-cell disease are live in the world’s poorest communities and cannot afford the eye-watering costs of treatments.

Gene therapy is facing its biggest challenge yet
Nature, December 2019 (Posted: Dec-07-2019 7AM)

After finally gaining traction as a potential treatment for certain genetic disorders, gene therapy tackles the challenge of sickle-cell disease.

Too many children live too far from sickle cell treatment they need
GB Staples, AJC, November 2019 (Posted: Dec-05-2019 7AM)

According to the latest Sickle Cell Data Collection program brief, many children with sickle cell disease and their families not only face long drives to health care providers, they have limited access to doctors who can provide the specialized treatment they need.

Cure Sickle Cell Initiative
NIH, 2019 Brand (Posted: Nov-21-2019 7AM)

The Cure Sickle Cell Initiative is a NHLBI-led collaborative research effort that will accelerate the development of genetic therapies to cure sickle cell disease. The Initiative will identify and support the most promising genetic therapies so they can be safely used in clinical research within five to 10 years.

Grants for Rare Disease Research
F Sankar, JAMA< November 19, 2019 (Posted: Nov-21-2019 7AM)

The FDA recently awarded $15 million over the next 4 years to support clinical research aimed at developing new drugs, devices, and medical foods for patients with rare diseases. The grants will support trials that enroll children with a variety of rare diseases, including Duchenne muscular dystrophy (DMD), sickle cell disease, and Fanconi anemia.

Variation in hospital admission of sickle cell patients from the emergency department using the Pediatric Health Information System.
Jacob Seethal A et al. Pediatric blood & cancer 2019 Nov e28067 (Posted: Nov-20-2019 8AM)

The results of our study confirm pain and fever as the most common primary diagnoses for children with SCD who seek acute care, as well as demonstrate that while significant variation in hospitalization exists, it is not associated with day of the week. Further studies to elucidate patient- and hospital-level factors that influence admission variation are necessary.

Estimated Life Expectancy and Income of Patients With Sickle Cell Disease Compared With Those Without Sickle Cell Disease
D Lubeck et al, JAMA Network Open, November 15, 2019 (Posted: Nov-16-2019 7AM)

This cohort simulation modeling study showed that projected life expectancy (54 vs 76 years) and quality-adjusted life expectancy (33 vs 67 years) were lower in the sickle cell disease cohort relative to the non–sickle cell disease cohort. Projected lifetime income was also lower in individuals with sickle cell disease.

Fulfilling the Promise - Ensuring the Success of Newborn Screening throughout Life
CDC, November 2019 Brand (Posted: Nov-13-2019 8AM)

Each year, more than 13,000 newborn babies are identified with conditions such as cystic fibrosis, sickle cell disease, congenital heart defects, and hearing loss through a public health program called newborn screening. Without specialized care and treatment, these babies would face long-term disability, or even death.

Gene-Editing Advance Puts More Gene-Based Cures Within Reach
F Collins, NIH Director Blog, November 5, 2019 Brand (Posted: Nov-06-2019 8AM)

There’s been tremendous excitement about the potential of CRISPR and related gene-editing technologies for treating or even curing sickle cell disease (SCD), muscular dystrophy, HIV, and a wide range of other devastating conditions. Now comes word of another remarkable advance—called “prime editing”—that may bring us even closer to reaching that goal.

Establishing a Multi-Country Sickle Cell Disease Registry in Africa: Ethical Considerations.
Munung Nchangwi Syntia et al. Frontiers in genetics 2019 10943 (Posted: Oct-30-2019 9AM)

To facilitate research on SCD in Africa, the SickleInAfrica consortium has established a registry that will store longitudinal data from persons with SCD across sub-Saharan Africa. In establishing this registry, the consortium decided to actively identify and anticipate possible ethical issues that may arise in the development and management of the registry.

Improving Access to Care in Sickle Cell Disease
E Ivy, HRSA, September 23, 2019 (Posted: Sep-24-2019 9AM)

I have lived with sickle cell disease for 48 years. The toll it takes goes far beyond pain – it has impacted me emotionally, economically, and psychosocially. The Sickle Cell Disease Treatment Demonstration Program aims to inform patients of treatments so they become active participants in their care.

CRISPR could help us cure sickle-cell disease. But patients are wary.
M Orcutt, MIT Review, September 18, 2019 (Posted: Sep-23-2019 8AM)

A gene-editing technique that has shown promise as a potential cure for sickle-cell disease is now being tested in humans. But if it works, will the people who need it even be able to get it? Now that a cure may be in sight, this is an urgent question.

Sickle cell drug raises hopes and doubts
M Wadman, Science, September 20, 2019 (Posted: Sep-20-2019 10AM)

Caregivers and Sickle Cell Disease
CDC, September 2019 Brand (Posted: Sep-17-2019 7AM)

Caring for a loved one with sickle cell disease? You are not alone!The challenges of caring for a loved one with a chronic disease, like sickle cell disease (SCD), can be isolating and overwhelming. Learn the effect Sickle cell disease has on family members & caregivers.

Strengthening Public Health Laboratories: Newborn Screening and Genetics – Hemoglobinopathies Project
CDC, 2019 Brand (Posted: Sep-14-2019 9AM)

In 2013, the Association of Public Health Laboratories’ and the CDC began working together on the Newborn Screening and Genetics – Hemoglobinopathies Project to help prevent and lower complications related to hemoglobinopathies, such as sickle cell disease and thalassemia.

Transfusion Complications Monitoring
CDC, 2019 Brand (Posted: Sep-11-2019 10AM)

Quantitative prediction of erythrocyte sickling for the development of advanced sickle cell therapies
L Lu et al, Science Advances, August 21, 2019 (Posted: Aug-23-2019 1PM)

NHLBI's 2019 Annual Sickle Cell Disease Research Meeting
NHLBI, August 26-28, 2019 Brand (Posted: Aug-21-2019 8AM)

Accelerating the Science of SCD Therapies—Is a Cure Possible?
EJ Benz et al, JAMA, August 8, 2019 (Posted: Aug-08-2019 11AM)

Molecular medicine is now at a pivotal moment in its history, a time when scientific capabilities to read, edit, and reprogram the human genetic code for therapeutic approaches are within reach. The rapid pace of innovation suggests that it is time to accelerate curative therapies for the first defined molecular disease, sickle cell disease.

A Phase 3 Randomized Trial of Voxelotor in Sickle Cell Disease
E Vichinsky et al, NEJM, August 7, 2019 (Posted: Aug-08-2019 8AM)

In this phase 3 randomized, placebo-controlled trial involving participants with sickle cell disease, voxelotor significantly increased hemoglobin levels and reduced markers of hemolysis.

A Targeted Agent for Sickle Cell Disease — Changing the Protein but Not the Gene
A Thompson, NEJM, August 7, 2019 (Posted: Aug-08-2019 8AM)

Sickle Cell Disease Still Tends to Be Overlooked
AE Carroll, NY Times, August 5, 2019 (Posted: Aug-06-2019 8AM)

Sickle Cell Patient Reveals Why She Is Volunteering For Landmark Gene-Editing Study
R Stein, NPR, July 29, 2019 (Posted: Jul-29-2019 8AM)

"This is an exciting moment in medicine. CRISPR promises the capacity to alter the human genome and to begin to directly address genetic diseases." "It's a good time to get healed," she says. The 34-year-old from Forest, Miss., has struggled with sickle cell disease throughout her life.

Incidence, demographic characteristics, and geographic distribution of sickle cell trait and sickle cell anemia births in Michigan, 1997-2014.
Reeves Sarah L et al. Molecular genetics & genomic medicine 2019 Jun e795 (Posted: Jun-26-2019 9AM)

CE: Understanding the Complications of Sickle Cell Disease.
Tanabe Paula et al. The American journal of nursing 2019 Jun (6) 26-35 (Posted: Jun-24-2019 10AM)

Continuing education: Nurses can download a table of major sickle cell disease-associated health complications and its nursing implications to help provide better care for patients.

Coming Together to Confront Sickle Cell Disease
A Azar, HHS, June 19, 2019 (Posted: Jun-19-2019 2PM)

Disease of the Week: Sickle Cell Disease
CDC<,June 2019 Brand (Posted: Jun-19-2019 1PM)

A Missed Opportunity to Address a National Shame: The Case of Sickle Cell Disease in the United States.
Freed Gary L et al. JAMA pediatrics 2019 Jun (Posted: Jun-18-2019 8AM)

Understanding Sickle Cell Disease
CDC.gov (Posted: May-29-2019 9AM)

Sickle cell disease: Clinical presentation and management of a global health challenge.
Houwing M E et al. Blood reviews 2019 May (Posted: May-29-2019 9AM)

Capacity Building for Sickle Cell Disease Surveillance
CDC Funding Announcement, May 2019 Brand (Posted: May-27-2019 5PM)

Management of Chronic Pain in Adults Living With Sickle Cell Disease in the Era of the Opioid Epidemic A Qualitative Study
CB Sinha, JAMA Network Open, May 24, 2019 (Posted: May-27-2019 5PM)

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Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Genomics and Precision Public Health to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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