Late-onset X-linked sideroblastic anemia following hemodialysis

Kazumichi Furuyama, Hideo Harigae, Chiharu Kinoshita, Toshihiko Shimada, Kazuko Miyaoka, Chiaki Kanda, Yoshifumi Maruyama, Shigeki Shibahara, Shigeru Sassa

研究成果: Article査読

22 被引用数 (Scopus)

抄録

X-linked sideroblastic anemia (XLSA) is due to deficient activity of erythroid-specific 5-aminolevulinate synthase (ALAS2). We report here a patient who developed sideroblastic anemia at the age of 81 years while undergoing hemodialysis. The diagnosis of sideroblastic anemia was established by the presence of ringed sideroblasts in the bone marrow, and treatment with oral pyridoxine completely eliminated the ringed sideroblasts. We identified a novel point mutation in the fifth exon of this patient's ALAS2 gene, which resulted in an amino acid change at residue 159 from aspartic acid to asparagine (Asp159Asn). In vitro analyses of recombinant Asp159Asn ALAS2 revealed that this mutation accounted for the pyridoxine-responsiveness of this disease. The very late onset in this case of XLSA emphasizes that nutritional deficiencies caused either by dietary irregularities in the elderly or, as in this case, by maintenance hemodialysis therapy, may uncover occult inherited enzymatic deficiencies in the heme biosynthetic pathway.

本文言語English
ページ(範囲)4623-4624
ページ数2
ジャーナルBlood
101
11
DOI
出版ステータスPublished - 2003 6月 1
外部発表はい

ASJC Scopus subject areas

  • 生化学
  • 免疫学
  • 血液学
  • 細胞生物学

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