Band 3 deficiency as a cause of hereditary spherocytosis

DOI Web Site PubMed

Bibliographic Information

Other Title
  • 遺伝性球状赤血球症の病因としてのband 3異常症
  • イデンセイ キュウジョウ セッケッキュウショウ ノ ビョウイン ト シテ ノ band3 イジョウショウ

Search this article

Abstract

Band 3 protein accounts for the largest percentage of whole erythrocyte membrane proteins. Abnormalities in this protein are closely associated with pathologies including hereditary spherocytosis (HS), Southeast Asian ovalocytosis and distant renal tubular acidosis. Currently, EMA binding capacity measurement in erythrocytes is the most useful screening test for diagnosing HS. We have also demonstrated reduced EMA binding capacity in patients with HS who have deficiencies of membrane proteins such as ankyrin not directly binding to EMA and who have as yet undetectable abnormalities of membrane proteins. However, even patients with hereditary elliptocytosis, who have a partial spectrin deficiency, were found to show reduced EMA binding capacity. Six of 7 had spherocytic elliptocytosis. Therefore, it is necessary to meticulously diagnose HS by ruling out all other possibilities.

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 56 (7), 837-845, 2015

    The Japanese Society of Hematology

Keywords

Details 詳細情報について

Report a problem

Back to top