Anemia, Diamond-Blackfan

Below you will find more information about Anemia, Diamond-Blackfan from Medigest. If you believe that you are suffering from any of the symptoms of Anemia, Diamond-Blackfan it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Anemia, Diamond-Blackfan and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Anemia, Diamond-Blackfan comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


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.


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.


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.

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.

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