Other Names for this Disease
- Anemia Diamond Blackfan type
- Blackfan Diamond syndrome
- Anemia congenital erythroid hypoplastic
bone marrow to produce red blood cells. It is usually diagnosed during the first year of life. Individuals with Diamond Blackfan anemia may also have physical abnormalities of the face head, upper limbs, hands (mostly involving the thumbs), genitalia, urinary tract, and heart. Some affected individuals also have short stature. Diamond Blackfan anemia is caused by a mutation in a number of different gene(s), some of which have been identified and some of which have not. Identified genes include but are not limited to: RPS19, RPL5, and RPS10. About 45% of people with Diamond Blackfan anemia inherit this condition from a parent. Inheritance is typically autosomal dominant , but can rarely be X-linked .  Treatment may involve corticosteroids, blood transfusions, a bone marrow transplant or stem cell transplantation.Diamond Blackfan anemia is an inherited blood disorder that affects the ability of the
Last updated: 12/4/2015
- Diamond Blackfan Anemia. Centers for Disease Control and Prevention (CDC). 2015; http://www.cdc.gov/ncbddd/dba/facts.html. Accessed 12/4/2015.
- Diamond-Blackfan anemia. Genetics Home Reference. November 2015; http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia. Accessed 12/3/2015.
- Clinton, C, Gazda, HT. Diamond Blackfan Anemia. GeneReviews. 2014; http://www.ncbi.nlm.nih.gov/books/NBK7047/. Accessed 12/3/2015.
- The Children's Hospital Boston provides an information page on Diamond-Blackfan anemia. Click on the link above to access this information.
- You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
- Genetics Home Reference (GHR) contains information on Diamond-Blackfan anemia. This website is maintained by the National Library of Medicine.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Diamond-Blackfan anemia. Click on the link to view a sample search on this topic.
- Congenital anomalies, mode of inheritance, cancer predisposition, and pregnancy in DBA are reviewed in this journal article entitled, Diamond Blackfan anaemia: diagnostics and treatment recommendations from an international clinical consensus conference . The recommendations regarding the diagnosis and management described in this report are the result of deliberations and discussions at an international consensus conference.