Blackfan-Diamond anemia
= = Blackfan-Diamond Anemia ==
Blackfan-Diamond Anemia (BDA), also known as Diamond-Blackfan Anemia (DBA), is a rare genetic disorder characterized by failure of the bone marrow to produce red blood cells. This condition leads to anemia and various physical abnormalities. It is named after the pediatricians Louis K. Diamond and Kenneth Blackfan, who first described the condition in 1938.
Etiology[edit | edit source]
BDA is primarily caused by mutations in genes that are involved in ribosome biogenesis. The most commonly affected gene is RPS19, which accounts for approximately 25% of cases. Other genes associated with BDA include RPL5, RPL11, and RPS7. These mutations lead to defective ribosomal protein production, which impairs the ability of bone marrow to produce red blood cells.
Clinical Features[edit | edit source]
Patients with Blackfan-Diamond Anemia typically present with severe anemia within the first year of life. Common symptoms include:
- Pallor
- Fatigue
- Shortness of breath
In addition to anemia, individuals with BDA may exhibit physical abnormalities such as:
- Craniofacial malformations
- Thumb anomalies
- Short stature
Diagnosis[edit | edit source]
The diagnosis of BDA is based on clinical findings, laboratory tests, and genetic testing. Key diagnostic criteria include:
- Macrocytic anemia with reticulocytopenia
- Normal bone marrow cellularity with a paucity of erythroid precursors
- Genetic testing confirming mutations in known BDA-associated genes
Treatment[edit | edit source]
Management of Blackfan-Diamond Anemia involves:
- Corticosteroids: Often the first line of treatment to stimulate red blood cell production.
- Blood transfusions: Used to manage severe anemia in patients unresponsive to steroids.
- Hematopoietic stem cell transplantation: Considered in severe cases or when other treatments fail.
Prognosis[edit | edit source]
The prognosis for individuals with BDA varies. Some patients respond well to treatment and lead relatively normal lives, while others may experience complications such as iron overload from repeated blood transfusions or increased risk of malignancies.
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the genetic basis of BDA and develop targeted therapies. Gene therapy and novel pharmacological agents are areas of active investigation.
See Also[edit | edit source]
- Anemia
- Bone marrow failure syndromes
- Ribosomopathies
- Diamond, L. K., & Blackfan, K. D. (1938). Hypoplastic anemia. American Journal of Diseases of Children, 56(3), 464-467.
- Lipton, J. M., & Ellis, S. R. (2009). Diamond Blackfan anemia 2008 2009: broadening the scope of ribosome biogenesis disorders. Current Opinion in Pediatrics, 21(1), 12-18.
NIH genetic and rare disease info[edit source]
Blackfan-Diamond anemia is a rare disease.
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