» Articles » PMID: 10895969

Abnormalities of Erythrocyte Membrane Proteins in Korean Patients with Hereditary Spherocytosis

Overview
Specialty General Medicine
Date 2000 Jul 15
PMID 10895969
Citations 5
Authors
Affiliations
Soon will be listed here.
Abstract

Hereditary spherocytosis (HS) is a common inherited erythrocyte membrane disorder characterized by chronic hemolytic anemia. Clinical manifestations and biochemical abnormalities of HS are heterogeneous. In this study, we investigated erythrocyte membrane protein defects in 27 Korean HS cases. Utilizing both the Fairbanks system and the Laemmli system, sodium dodecyl sulfate polyacrylamide gel electrophoresis of erythrocyte membrane proteins was performed. Proteins were stained with Coomassie brilliant blue and gels were 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 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). Membrane protein deficiencies were not observed in nine cases (33.3%, 9/27). Members of two of seven families tested 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. Protein 4.2 deficiency caused HS more frequently in Koreans than in Caucasians.

Citing Articles

Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea.

Chueh H, Shim Y, Jung H, Kim N, Hwang S, Kim M J Korean Med Sci. 2024; 39(18):e162.

PMID: 38742293 PMC: 11091231. DOI: 10.3346/jkms.2024.39.e162.


Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte.

Choi H, Choi Q, Kim J, Im K, Park S, Park Y Orphanet J Rare Dis. 2019; 14(1):114.

PMID: 31122244 PMC: 6533652. DOI: 10.1186/s13023-019-1070-0.


Proteomic identification of erythrocyte membrane protein deficiency in hereditary spherocytosis.

Peker S, Akar N, Ozel Demiralp D Mol Biol Rep. 2011; 39(3):3161-7.

PMID: 21706353 DOI: 10.1007/s11033-011-1082-x.


A case of concomitant Gilbert's syndrome and hereditary spherocytosis.

Lee H, Moon H, Lee E, Kim S, Sung J, Lee B Korean J Hepatol. 2010; 16(3):321-4.

PMID: 20924216 PMC: 3304593. DOI: 10.3350/kjhep.2010.16.3.321.


Ankyrin-linked hereditary spherocytosis in an African-American kindred.

Sangerman J, Maksimova Y, Edelman E, Morrow J, Forget B, Gallagher P Am J Hematol. 2008; 83(10):789-94.

PMID: 18704959 PMC: 11304496. DOI: 10.1002/ajh.21254.