Case Report

Band 3 Tokyo: Thr⁸³⁷Ala⁸³⁷ Substitution in Erythrocyte Band 3 Protein Associated with Spherocytic Hemolysis
Satsuki Iwase^a, Hiroshi Ideguchi^b, Mayumi Takao^b, Junko Horiguchi-Yamada^a, Masafumi Iwasaki^a, Shinobu Takahara^a, Tetsuaki Sekikawa^a, Seibu Mochizuki^a, Hisashi Yamada<sup>a

a</sup> Department of Internal Medicine, Aoto Hospital, Jikei University School of Medicine, Tokyo,
^b Department of Clinical Chemistry and Laboratory Medicine, School of Medicine, Fukuoka University, Fukuoka, Japan

Address of Corresponding Author

Acta Haematol 1998;100:200-203 (DOI: 10.1159/000040904)

  Key Words

• AE1 gene
• Band 3 deficiency
• Erythrocyte membrane
• Hereditary spherocytosis
• Missense mutation

  Abstract

We report a case of spherocytosis associated with erythrocyte band 3 deficiency. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis of erythrocyte membrane proteins showed that the patient's band 3 was reduced to about 80% of the control level. Molecular analysis revealed that this quantitative alteration was accompanied by a novel base change at codon 837 (ACGGCG) of the AE1 gene, resulting in substitution of alanine for threonine. In bone marrow mononuclear cells, both mutant and wild-type mRNA were comparably detected, suggesting that this mutation interfered with band 3 processing or assembly, leading to impaired accumulation of mutant band 3 in the plasma membrane.

  Author Contacts

Satsuki Iwase, MD
Department of Internal Medicine, Aoto Hospital
Jikei University School of Medicine
6-41-2 Aoto, Katsushika-ku, Tokyo 125-8506 (Japan)
Tel. +81 3 3603 2111, Fax +81 3 3603 2234, E-Mail aoto-hsp@fa2.so-net.or.jp

  Article Information

Received: Received: June 25, 1998
Accepted: July 11, 1998
Number of Print Pages : 4
Number of Figures : 4, Number of Tables : 0, Number of References : 18