Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis

Hereditary spherocytosis (HS) is a common inherited erythrocyte membrane di sorder characterized by chronic hemolytic anemia. Clinical manifestations a nd biochemical abnormalities of HS are heterogeneous. In this study, we inv estigated erythrocyte membrane protein defects in 27 Korean HS cases. Utili zing both the Fairbanks system and the Laemmli system, sodium dodecyl sulfa te polyacrylamide gel electrophoresis of erythrocyte membrane proteins was performed. Proteins were stained with Coomassie brilliant blue and gels wer e scanned using a densitometer. We detected spectrin deficiency in 7.4% of cases (2/27), ankyrin deficiency in 29.6% (8/27), combined spectrin and ank yrin deficiency in 3.7% (1/27), band 3 deficiency in 11.1% (3/27) and prote in 4.2 deficiency in 14.8% (4/27). Membrane protein deficiencies were not o bserved in nine cases (33.3%, 9/27). Members of two of seven families teste d showed the same protein defects as the proband. Ankyrin deficiency alone and combined with spectrin deficiency accounted for 33.3% of cases (9/27), and they were the most common biochemical defects in Korean HS cases. Prote in 4.2 deficiency caused HS more frequently in Koreans than in Caucasians.