How To Treat Diamond-Blackfan Anemia

When an individual has bone marrow in their body that cannot produce a sufficient amount of red blood cells to replace the naturally dying red blood cells, they have a disorder called Diamond-Blackfan anemia. A defective ribosomal protein gene is what causes the development of Diamond-Blackfan anemia. This defective gene causes the organelles called ribosomes in the patient's cells to be unable to produce certain types of proteins needed for the formation of enough healthy red blood cells. Most individuals affected by this form of anemia experience symptoms such as fatigue, pale skin color, breathlessness, dyspnea, short stature, thumb defects, defects in the heart, neck abnormalities, face abnormalities, kidney defects, and head abnormalities. Diamond-Blackfan anemia is diagnosed with the use of blood tests, genetic testing, bone marrow biopsy, bone marrow aspiration, and physical examination.