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Anemia, Diamond-Blackfan

Anemia, Diamond-Blackfan Clinical Features

Diamond-Blackfan anemia is characterized by extremely low red blood cell counts (anemia) and a decrease in erythroid progenitors of the bone marrow. Almost 50% of Diamond-Blackfan anemia patients suffer from various congenital abnormalities, such as cleft plate, cardiac defects, upper limb and thumb abnormalities, craniofacial malformations and cardiac defects, urogenital malformations. Many patients of Diamond-Blackfan anemia have low birth weight and growth retardation. Diamond-Blackfan anemia suffers have a high risk of developing leukemia.

Anemia, Diamond-Blackfan Definition

Diamond-Blackfan anemia is a congenital erythroid aplasia, which is commonly present in infants. Patients with Diamond-Blackfan anemia have anemia (or low red blood cell counts). However, the remaining blood cells, such as white blood cells and platelets, have normal counts. Various congenital abnormalities may also occur with Diamond-Blackfan anemia patients.

Anemia, Diamond-Blackfan Diagnosis

Diagnosis of Diamond-Blackfan anemia involves an observation of anemia, low immature red blood cells counts and a dramatic loss of erythroid precursors in the bone marrow. These clinical features support the presence of congenital abnormalities, elevated fetal hemoglobin, macrocytosis, elevated adenosine deaminase levels in the red blood cells. Most patients of Diamond-Blackfan anemia are diagnosed during the first 2 years of life.

Anemia, Diamond-Blackfan Treatment

Diamond-Blackfan anemia treatments involve corticosteroids. In a study of 200 patients, over 80% responded to corticosteroids therapy. However, some side effects occur. Blood transfusions may also help treat severe cases of Diamond-Blackfan anemia. When remissions occur, steroid treatments are not recommended. For hematological aspects of Diamond-Blackfan anemia, bone marrow transplantation is needed. However, this type of treatment is only advised for transfusion-dependent patients because iron overloading or organ damage may occur.

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