Serious Symptoms Of Diamond-Blackfan Anemia

Diamond-Blackfan anemia is a rare blood disorder that has adverse effects on the bone marrow and its functionality. Bone marrow is the spongy substance located in the hollow core of the bones. It is responsible for the production of new red blood cells, white blood cells, and platelets. When an individual has Diamond-Blackfan anemia, they have bone marrow that cannot produce a sufficient supply of red blood cells to meet the needs of their body. This condition is caused by DNA mutations in certain genes that encode ribosomal proteins in eighty to eighty-five percent of cases, and the remaining twenty percent have an idiopathic form of Diamond-Blackfan anemia with no identified abnormal genes. A diagnosis is made using tests such as a CBC, reticulocyte count, mean corpuscular volume, eADA activity level, and genetic testing. Treatment of Diamond-Blackfan anemia may include a red blood cell transfusion, iron chelation, and corticosteroid medications.