A novel mutation of the erythroid-specific δ-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia

Hideo Harigae, Kazumichi Furuyama, Kazuko Kudo, Norio Hayashi, Masayuki Yamamoto, Shigeru Sassa, Takeshi Sasaki

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

A novel missense mutation, G663A, in exon 5 of the erythroid-specific δ-aminolevulinate synthase gene (ALAS2) was identified in a Japanese male with pyridoxine-responsive sideroblastic anemia. Activity of the mutant δ- aminolevulinate synthase protein expressed in vitro was 15.1% compared with the normal control, but was increased up to 34.5% by the addition of pyridoxal 5'-phosphate, consistent with the clinical response of the patient to pyridoxine treatment. The same mutation was also detected in genomic DNA from the oral mucosal membrane of the patient; however, it was not detected in other family members. These findings suggest that this G663A mutation is responsible for sideroblastic anemia in the proband, and may be an index mutation in this pedigree.

Original languageEnglish
Pages (from-to)112-114
Number of pages3
JournalAmerican Journal of Hematology
Volume62
Issue number2
DOIs
Publication statusPublished - 13-10-1999
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Hematology

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