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 Prepublished online as a Blood First Edition Paper on January 16, 2003; DOI 10.1182/blood-2002-09-2804.

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Blood, 1 June 2003, Vol. 101, No. 11, pp. 4623-4624

RED CELLS
Brief report

Late-onset X-linked sideroblastic anemia following hemodialysis

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

From the Department of Molecular Biology and Applied Physiology, and the Department of Molecular Diagnostics, Tohoku University School of Medicine, Sendai, Japan; Kyoto Minute-I-Ren Central Hospital, Kyoto, Japan; Maruyama Clinic, Kyoto, Japan; and Rockefeller University, New York, NY.

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.


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