Korean J Hematol 1999; 34(4):
Published online December 31, 1999
© The Korean Society of Hematology
이영경, 조한익, 박성섭, 나은경, 장윤환, 허미나, 이영준, 신희영, 안효섭
서울대학교 의과대학 임상병리과학교실,
한림대학교 의과대학 임상병리학교실,
서울대학교 의과대학 소아과학교실
BACKGROUND: Red cell membrane is a lipid bilayer laminated by the membrane cytoskeleton at the surface of inner monolayer. A class of hemolytic anemia, such as hereditary spherocytosis(HS) or hereditary elliptocytosis (HE) is mainly caused by the abnormalities of the protein components in the cytoskeleton, which is useful to diagnosis each disorder. We investigated red cell membrane protein defects in HS and HE using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE).
METHODS: We studied 10 normal healthy volunteers, 27 HS cases and 5 HE cases. Erythrocyte membrane proteins were prepared by hypotonic lysis, and fractionated by SDS-PAGE using both the Fairbanks system (3.5~17% exponential gradient gel), and the Laemmli system (4~17% linear gradient gel). Fractionated proteins were stained with Coomassie brilliant blue and scanned to quantitate each protein using a densitometer.
RESULTS: We detected nine peaks in Fairbanks' gel and eight peaks in Laemmli's. We identified red cell membrane abnormalities in 18 of 27 HS patients (66.7%). Spectrin deficiency alone was in 7.4% of HS cases(2/27), ankyrin deficiency alone in 29.6% (8/27), combined spectrin and ankyrin deficiency in 3.7% (1/27), band 3 deficiency in 11.1% (3/27) and protein 4.2 deficiency in 14.8% (4/27). In HE, three of five cases showed protein 4.1 deficiency. RBC membrane protein deficiencies were not observed in nine HS cases and two HE case.
CONCLUSION: In HS, Ankyrin deficiency is the most common RBC membrane protein abnormality, and protein 4.2 deficiency is more frequently found in Korean HS patients than in Caucasians. In HE patients, protein 4.1 deficiencies is the main red cell membrane protein defect, which is rarely reported in Caucasians.
Keywords Hemolytic anemia, Pathogenesis, Diagnosis, Hereditary spherocytosis, Hereditary elliptocytosis, RBC membrane protein, SDS-PAGE
Korean J Hematol 1999; 34(4): 559-567
Published online December 31, 1999
Copyright © The Korean Society of Hematology.
이영경, 조한익, 박성섭, 나은경, 장윤환, 허미나, 이영준, 신희영, 안효섭
서울대학교 의과대학 임상병리과학교실,
한림대학교 의과대학 임상병리학교실,
서울대학교 의과대학 소아과학교실
Young Kyung Lee, Han Ik Cho, Sung Sup Park, Eun Kyung Ra, Yoon Hwan Chang, Mi Na Hur, Young Joon Lee, Hee Young Shin, Hyo Seop Ahn
Department of Clinical Pathology, Pediatrics, Seoul National University College of Medicine, Seoul, Korea
Department of Clinical Pathology, Hallym University College of Medicine, Korea
BACKGROUND: Red cell membrane is a lipid bilayer laminated by the membrane cytoskeleton at the surface of inner monolayer. A class of hemolytic anemia, such as hereditary spherocytosis(HS) or hereditary elliptocytosis (HE) is mainly caused by the abnormalities of the protein components in the cytoskeleton, which is useful to diagnosis each disorder. We investigated red cell membrane protein defects in HS and HE using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE).
METHODS: We studied 10 normal healthy volunteers, 27 HS cases and 5 HE cases. Erythrocyte membrane proteins were prepared by hypotonic lysis, and fractionated by SDS-PAGE using both the Fairbanks system (3.5~17% exponential gradient gel), and the Laemmli system (4~17% linear gradient gel). Fractionated proteins were stained with Coomassie brilliant blue and scanned to quantitate each protein using a densitometer.
RESULTS: We detected nine peaks in Fairbanks' gel and eight peaks in Laemmli's. We identified red cell membrane abnormalities in 18 of 27 HS patients (66.7%). Spectrin deficiency alone was in 7.4% of HS cases(2/27), ankyrin deficiency alone in 29.6% (8/27), combined spectrin and ankyrin deficiency in 3.7% (1/27), band 3 deficiency in 11.1% (3/27) and protein 4.2 deficiency in 14.8% (4/27). In HE, three of five cases showed protein 4.1 deficiency. RBC membrane protein deficiencies were not observed in nine HS cases and two HE case.
CONCLUSION: In HS, Ankyrin deficiency is the most common RBC membrane protein abnormality, and protein 4.2 deficiency is more frequently found in Korean HS patients than in Caucasians. In HE patients, protein 4.1 deficiencies is the main red cell membrane protein defect, which is rarely reported in Caucasians.
Keywords: Hemolytic anemia, Pathogenesis, Diagnosis, Hereditary spherocytosis, Hereditary elliptocytosis, RBC membrane protein, SDS-PAGE
Young‑Uk Cho
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