Sickle cell anemia
Sickle cell anemia is an autosomal recessive disorder in which abnormal hemoglobin leads to chronic hemolytic anemia with a variety of clinical consequences. The disorder is a classic example of disease caused by a point mutation in DNA. When in the deoxy form, hemoglobin S forms polymers that damage the red blood cell membrane. Both polymer formation and early membrane damage are reversible. However, red blood cells that have undergone repeated sickling are damaged beyond repair and become irreversibly sickled cells.The hemoglobin S gene is carried in 8% of American blacks, and one birth out of 400 in American blacks will produce a child with sickle cell anemia. Chronic hemolytic anemia produces jaundice, pigment gallstones, splenomegaly, and poorly healing ulcers over the lower tibia. The chronic anemia may become life threatening when severe anemia is produced by hemolytic or aplastic crises. Aplastic crises occur when the ability of the bone marrow to compensate is reduced by viral or other inf
(2) Turning on the genes that increase the production of HbF. Tierney, Jr.,Lawrence MD, Stephen J McPhee, MD, and Maxine A Papadakis, MD, Current Medical Diagnosis & Treatment. New Jersey: Prentice-Hall 435-437 Bloom, PhD Miriam,Understanding Sickle Cell Disease. Mississippi: University Press of Mississippi, 1995.
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