A new case of the unstable haemoglobin Genova (alpha 2 beta 2 28 (beta 10) leu leads to pro) in Canada: as a result of sporadic mutation and causing Heinz body haemolytic anaemia.
The first case of the unstable Hb Genova as a result of sporadic mutation is described. It is found in a 3-year-old Canadian boy of East Indian extraction with chronic Heinz body haemolytic anaemia.
D000596:Amino Acids / Q000097:blood; D000745:Anemia, Hemolytic, Congenital / Q000209:etiology*; D001789:Blood Group Antigens; D002170:Canada; D002675:Child, Preschool; D006366:Heinz Bodies; D006454:Hemoglobins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000302:isolation & purification*; D006801:Humans; D008297:Male; D009154:Mutation
D000596:Amino Acids; D001789:Blood Group Antigens; D006454:Hemoglobins; D006455:Hemoglobins, Abnormal