How To Treat And Diagnose Diamond-Blackfan Anemia

Diamond-Blackfan anemia is a blood disorder in which individuals have bone marrow that cannot produce sufficient red blood cells to replace naturally dying ones. This condition develops due to a defective ribosomal protein gene. This defective gene causes the organelles called ribosomes in the patient's cells to be unable to produce certain proteins needed to form enough healthy red blood cells. Symptoms Of Diamond-Blackfan anemia include fatigue, pale skin color, breathlessness, dyspnea, short stature, thumb defects, and defects in the heart or kidneys. Neck, head, and face abnormalities are other signs. 

Treatment for Diamond-Blackfan anemia is vital. Patients often need to try a variety of treatments to ensure that all their symptoms are handled. Although some patients may want to try natural chelation therapy, the best option is chelation medication. Blood transfusions for anemia are also a common treatment option. Many individuals may need a stem cell transplant for Diamond-Blackfan anemia as well. Of course, Diamond-Blackfan anemia treatment starts with diagnosing the condition properly.

Complete Blood Count (CBC)


A complete blood count (CBC) test is one of the many diagnostic methods for Diamond-Blackfan anemia. Professionals use it to evaluate the cells circulating in the blood, including red and white blood cells and platelets. The CBC is a group of tests capable of detecting a plethora of diseases and conditions, such as infections, leukemia, and anemia. It also assesses a patient's overall health. Red blood cells, also called erythrocytes, are released into the bloodstream when they mature and are produced in the bone marrow, a semi-solid tissue found inside the bones. Those contain hemoglobin, a type of protein that transports oxygen to the whole body. On the other hand, white blood cells or leukocytes exist in the lymphatic system, the blood, and tissues and play an essential part of the body's natural defense (immune) system. Lastly, platelets or thrombocytes are tiny cell fragments circulating in the bloodstream, and the human body requires them for normal blood clotting. 

Continue reading to learn more about the different ways to diagnose Diamond-Blackfan anemia.

Whitney Alexandra