Late-onset X-linked sideroblastic anemia following hemodialysis

Blood

Volumn 101, Issue 11, 2003, Pages 4623-4624

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

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

PYRIDOXINE; 5 AMINOLEVULINATE SYNTHASE;

AGED; ALAS2 GENE; ARTICLE; BLOOD SMEAR; BONE MARROW; CASE REPORT; CAUSE OF DEATH; CHRONIC KIDNEY FAILURE; CLINICAL FEATURE; DRUG RESPONSE; EXON; GENE; GENE MUTATION; HEMODIALYSIS; HUMAN; HUMAN TISSUE; MALE; NUTRITIONAL DISORDER; PRIORITY JOURNAL; SIDEROBLASTIC ANEMIA; X CHROMOSOME LINKAGE; GENETICS; NUCLEOTIDE SEQUENCE; NUTRITIONAL STATUS; ONSET AGE; POINT MUTATION; RENAL REPLACEMENT THERAPY; X CHROMOSOME LINKED DISORDER;

5-AMINOLEVULINATE SYNTHETASE; AGE OF ONSET; AGED; AGED, 80 AND OVER; ANEMIA, SIDEROBLASTIC; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC DISEASES, X-LINKED; HUMANS; MALE; NUTRITIONAL STATUS; POINT MUTATION; PYRIDOXINE; RENAL DIALYSIS;

EID: 0038819137     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-09-2804     Document Type: Article

References (10)

1. Cotter PD, May A, Fitzsimons EJ, et al. Late-onset X-linked sideroblastic anemia: missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. J Clin Invest. 1995;96:2090-2096.
2. Cazzola M, May A, Bergamaschi G, Cerani P, Rosti V, Bishop DF. Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. Blood. 2000;96:4363-4365.
3. Kushner JP. Late-onset hereditary anemia: why the delay? [editorial]. J Clin Invest. 1995;96:1695.
4. Furuyama K, Fujita H, Nagai T, et al. Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. Blood. 1997;90:822-830.
5. Hurford MT, Marshall-Taylor C, Vicki SL, et al. A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. Clin Chimica Acta. 2002;321:49-53.
6. Tanaka M, Bottomley SS. Bone marrow delta-aminolevulinic acid synthetase activity in experimental sideroblastic anemia. J Lab Clin Med. 1974;84:92-98.
7. Kopple JD, Mercurio K, Blumenkrantz MJ, et al. Daily requirement for pyridoxine supplements in chronic renal failure. Kidney Int. 1981;19:694-704.
8. Nankivell BJ. Vitamin B6 deficiency on hemodialysis causing sideroblastic anemia. Nephron. 1991;59:674-675.
9. May A, Bishop DF. The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia. Haematologica. 1998;83:56-70.
10. Furuyama K, Sassa S. Multiple mechanisms for hereditary sideroblastic anemia. Cell Mol Biol. 2002;48:5-10.