Last Posted: Jul 21, 2020
- Advances in Alpha-1 Antitrypsin Gene Therapy.
Lorincz Reka et al. American journal of respiratory cell and molecular biology 2020 Jul
- A Practical Guide to the Management of the Fetus and Newborn With Hemophilia.
Moorehead Paul C et al. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2018 Dec 24(9_suppl) 29S-41S
- What does the 'Cochrane database of systematic reviews' tell us about hemophilia?
Rodriguez-Merchan Emerito-Carlos et al. Expert review of hematology 2019 12(11) 919-922
- Inherited Bleeding Disorders in North Indian Children: 14 years' Experience from a Tertiary Care Center.
Sahoo Tanushree et al. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2020 Apr 36(2) 330-336
- Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease.
Lannoy Nathalie et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Apr
- Genetic screening of children with suspected inherited bleeding disorders.
Andersson Nadine G et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Feb
- Investigational Hemophilia A Gene Therapy Shows Sustained Benefit
J Abbasi, JAMA, February 11, 2020
- Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males: A Meta-analytic Approach Using National Registries.
Iorio Alfonso et al. Annals of internal medicine 2019 Sep
- Mothers' intentions and behaviours regarding providing risk communication to their daughters about their possibility of being haemophilia carriers: A qualitative study.
Fujii Tomie et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Oct
- Was the Human Genome Project a dud?
EF Torrey, Dallas Morning News, October 13, 2019
- Establishment of diagnostic facilities for autosomal recessive bleeding disorders in Pakistan.
Naz Arshi et al. Blood advances 2018 2(Suppl 1) 35-38
- Management of haemophilia carriers around the time of their delivery: Phenotypic variation requiring customization of management.
Girgis M R et al. Haemophilia : the official journal of the World Federation of Hemophilia 2018 24(3) e128-e129
- Gene therapy for hemophilia: Progress to date and challenges moving forward.
Gollomp Kandace L et al. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2019 Aug
- The $6 Million Drug Claim- New treatments for rare diseases are changing the lives of patients, but the price can reach millions of dollars for a single person.
K Thomas et al, NY Times, August 25, 2019
- Bleeding Disorders in Women: Free Materials
- CDC Information (18)
- NIH Information (8)
- CDC Publications (10)
- Human Genome Epidemiologic Studies (172)
- Genomic Tests Evidence Synthesis (7)
- Genomic Tests Guidelines (4)
- Tier-Classified Guidelines (3)
- Pathogen Advanced Molecular Detection (2)
- State Public Health Genomics Programs (7)
- Reviews/Commentaries (68)
- Tools/Methods (3)
- Ethical/Legal and Social Issues (ELSI) (4)
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the 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 update, 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.