A novel mutation of the erythroid-specific δ-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia

Hideo Harigae, Kazumichi Furuyama, Akiro Kimura, Kazuo Nerhshi, Nobuyasu Tahara, Masao Kondo, Norio Hayashi, Masayuki Yamamoto, Shigeru Sassa, Takeshi Sasaki

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

A novel missense mutation, A1754G, in exon 11 of the erythroid-specific δ-aminolaevulinate synthase gene (ALAS2) was identified in a Japanese male with sideroblastic anaemia. ALAS activity in bone marrow cells of the patient was reduced to 53.3% of the normal control. Consistent with this finding, activity of a bacterially expressed ALAS2 mutant protein harbouring this mutation was 19.5% compared with the normal control, but was increased up to 31.6% by the addition of pyridoxal 5'-phosphate (PLP) in vitro. RFLP analysis with Bsp HI restriction revealed that his mother was a carrier of the mutation. These findings suggest that A1754G mutation was inherited in this family in a manner consistent with X-linked inheritance, and is responsible for sideroblastic anaemia in the patient.

Original languageEnglish
Pages (from-to)175-177
Number of pages3
JournalBritish Journal of Haematology
Volume106
Issue number1
DOIs
Publication statusPublished - 1999 Aug 2

Keywords

  • ALAS
  • X-linked sideroblastic anaemia

ASJC Scopus subject areas

  • Hematology

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