<i>In vitro</i> analyses for the diagnosis of congenital sideroblastic anemia

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  • Furuyama Kazumichi
    Department of Molecular Biochemistry, School of Medicine, Iwate Medical University, Yahaba, Japan
  • Kamata Costantine Chasama
    Department of Molecular Biochemistry, School of Medicine, Iwate Medical University, Yahaba, Japan

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Other Title
  • 遺伝性鉄芽球性貧血の確定診断における <i>in vitro</i>実験系の役割について
  • 遺伝性鉄芽球性貧血の確定診断におけるin vitro実験系の役割について
  • イデンセイ テツガキュウセイ ヒンケツ ノ カクテイ シンダン ニ オケル in vitro ジッケンケイ ノ ヤクワリ ニ ツイテ

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Abstract

Erythroid-specific 5-aminolevulinate synthase (ALAS2) is the rate-limiting enzyme for heme biosynthesis in erythroid cells, and the genetic mutations cause X-linked sideroblastic anemia. Although more than 90 kinds of genetic mutation of the gene have been reported previously, the genotype-phenotype relationship has experimentally examined only a part of these cases. We have previously identified approximately 20 kinds of mutation of the ALAS2 gene in patients with X-linked sideroblastic anemia and have reported them with experimental data as the cause of the disease. In this review article, we will discuss the role of in vitro analysis in diagnosing congenital sideroblastic anemia.

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