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Hemoglobin C diseaseDefinition Hemoglobin C disease is a genetic blood disorder. It results in a chronic anemia in which the red blood cells are broken down prematurely. Causes, incidence, and risk factors Hemoglobin C is a hemoglobinopathy, caused by an inherited abnormality of the beta globin gene. This disorder is inherited as an autosomal recessive trait. Hemoglobin C produces a mild type of anemia that occurs because the red blood cells containing abnormal hemoglobin are broken down prematurely. Normal hemoglobin, known as hemoglobin A, is also present. The spleen may be enlarged, and there may be jaundice, a yellow color of the skin. Gallstones may develop and require treatment in adulthood. The disease occurs predominantly in black people. A family history of hemoglobin C is a risk factor. In combination with sickle hemoglobin, it results in Hemoglobin SC disease, which is characterized by hemolysis (blood-cell destruction) and painful crises. It is usually milder than sickle cell disease. Symptoms Usually there are no observable symptoms of this condition. Episodes of jaundice may occur occasionally. Signs and tests Physical examination reveals an enlarged spleen.
This disease may also alter the results of a serum hemoglobin test. Treatment Usually no treatment is required. Folic acid may help with the production of normal red blood cells, and supplementation may improve the symptoms of the anemia. Expectations (prognosis) People with hemoglobin C disease can expect to lead a normal life. Complications A complication is gallbladder disease. Calling your health care provider Call your health care provider if symptoms occur, or if new symptoms develop (jaundice, abdominal pain, weakness, fatigue, or shortness of breath). Prevention Genetic counseling is helpful for determining the risk for offspring in high-risk couples. Illustrations
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