Hemoglobin Moabit: alpha 86 (F7) Leu leads to Arg: a new unstable abnormal hemoglobin.
A new alpha chain abnormal hemoglobin variant was found in a Turkish patient with a mild Heinz body hemolytic anemia and splenomegaly. The substitution alpha 86 Leu leads to Arg, which is next to the heme binding proximal histidine, is responsible for a marked instability of the molecule. The oxygen affinity of the erythrocytes was found to be slightly decreased.
D000328:Adult; D000596:Amino Acids / Q000032:analysis; D000745:Anemia, Hemolytic, Congenital / Q000097:blood*; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000378:metabolism; D006366:Heinz Bodies; D006418:Heme / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D010100:Oxygen / Q000097:blood; D013163:Splenomegaly / Q000097:blood*; D014421:Turkey / Q000208:ethnology
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D006418:Heme; D010100:Oxygen