Congenital hypoplastic anemia
Congenital Hypoplastic Anemia also known as Diamond-Blackfan Anemia (DBA), is a rare, inherited blood disorder that affects the bone marrow.
Overview[edit | edit source]
DBA is characterized by a failure of the bone marrow (the center of the bone where blood cells are made) to produce red blood cells. This failure causes DBA patients to become severely anemic. The disorder usually manifests itself within the first year of life.
Symptoms[edit | edit source]
The symptoms of DBA may include fatigue, weakness, pallor, and slow growth. In addition, some individuals may have deformities of the thumbs, forearms, and/or upper arms and abnormalities of the heart and urinary system.
Causes[edit | edit source]
DBA is caused by mutations in one of several genes, including the RPS19 gene. These mutations lead to a shortage of red blood cells, which can cause the signs and symptoms of this condition.
Diagnosis[edit | edit source]
Diagnosis of DBA is based on the presence of typical clinical features and is confirmed by genetic testing.
Treatment[edit | edit source]
Treatment for DBA may include corticosteroids, blood transfusions, and in severe cases, a bone marrow transplant.
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
