Keywords
Aplastic
Diamond-Blackfan
genetic diseases
inborn
congenital abnormalities
How to Cite
Abstract
Diamond-Blackfan anemia is a rare, congenital, autosomal dominant disease in which the main defect is a mutation in a ribosomal protein. It is characterized by erythroid aplasia that results in normochromic macrocytic anemia, this disease begins in childhood and associates congenital malformations and susceptibility to malignancies. The diagnosis is based on clinical and molecular features. The initial treatment is blood transfusions and corticosteroids; but currently the only known curative treatment is allogeneic hematopoietic stem cell transplantation from a compatible donor.
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