[Gene diagnosis of hemolytic anemia].
Gene analysis in hemolytic anemia has been reported recently. It is now recognized that inherited molecular defects of red blood cell membrane proteins have at least five phenotypes. The recent cloning of the G-6-PD gene has given us an entirely new perspective on the population genetics of G-6-PD deficiency and provided new and useful diagnostic tools. Prenatal diagnosis of thalassemia has been possible. Deficiency of the GPI anchor protein may be caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.
Department of Pediatrics, Saga Medical School.
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Miyazaki
D000745:Anemia, Hemolytic, Congenital / Q000175:diagnosis*; D003001:Cloning, Molecular; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis; D006453:Hemoglobinopathies / Q000175:diagnosis; D006457:Hemoglobinuria, Paroxysmal / Q000175:diagnosis; D006801:Humans; D015336:Molecular Probe Techniques; D012150:Polymorphism, Restriction Fragment Length; D011770:Pyruvate Kinase / Q000172:deficiency; D013103:Spherocytosis, Hereditary / Q000175:diagnosis
D011770:Pyruvate Kinase