[Diagnosis and gene analysis of congenital hemolytic anemia]

Congenital hemolytic anemia is relatively uncommon and tends to be left undiagnosed because unusual special tests outside health insurance adaptation are needed for the diagnosis. To diagnose properly these patients, we instituted a comprehensive examination system for hemolytic anemia in Fukuoka University Hospital in 1990. In addition to basic laboratory tests, investigation of hemoglobin, SDS-PAGE analysis of red blood cell membrane proteins, a complete panel of red cell enzyme measurements and gene analysis were included. The red cell enzyme measurements was facilitated by the automation on the COBAS MIRA instrument (NIPPON ROCHE). By such a comprehensive examination, we have identified and confirmed 382 cases of congenital hemolytic anemia which otherwise would have escaped detection during the period October 1990 to September 2005 in our institution. SDS-PAGE procedure contributed to the diagnosis of 24 cases of band 3 deficiency, 13 cases of band 4.2 deficiency and 13 cases of band 4.1 deficiency. Hemoglobin studies uncovered 20 cases of abnormal hemoglobins, 126 cases of beta thalassemia and 7 cases of alpha thalassemia. Red cell enzyme measurements were also contributory to the diagnosis of 29 cases of hemolytic anemia in which enzyme levels were reduced.