Onset of X-linked sideroblastic anemia in the fourth decade

Haematologica

Volumn 89, Issue 10, 2004, Pages 1261-1263

  Cortesão, Emiĺia ^a   Vidan, Júlia ^a   Pereira, Janet ^a   Conçoives, Paula ^a   Ribeiro, Maria Leticia ^a   Tamagnini, Gabriel ^a  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

Author keywords

ALAS2; Frameshift mutation; Iron overload; Pyridoxine refractory; X linked sideroblastic anemia

Indexed keywords

PYRIDOXINE;

ADULT; ALAS2 GENE; ARTICLE; CASE REPORT; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE; HETEROZYGOTE; HUMAN; IRON OVERLOAD; MACROCYTIC ANEMIA; ONSET AGE; X LINKED SIDEROBLASTIC ANEMIA;

5-AMINOLEVULINATE SYNTHETASE; ADULT; AGE OF ONSET; ALLELES; ANEMIA, SIDEROBLASTIC; ERYTHROPOIESIS; FEMALE; FRAMESHIFT MUTATION; GENES, X-LINKED; HETEROZYGOTE; HUMANS; IRON OVERLOAD; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; X CHROMOSOME INACTIVATION;

EID: 6344220330     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. May A, Bishop DF. The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia. Haematologica 1998;83:56-70.
2. Harigae H, Furuyama K, Kimura A, Neriishi K, Tahara N, Kondo M, et al. A novel mutation of the erythroid-specific δ-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia. Br J Haematol 1999;106:175-7.
3. Edgar AJ, Vidyatilake HMS, Wickramasinghe SN. X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution. Eur J Haematol 1998;61:55-8.
4. Cotter PD, May A, Fitzsimons EJ, Houston T, Woodcock BE, al-Sabah AI, et al. Late onset X-linked sideroblastic anemia. J Clin Invest 1995;96:2090-6.
5. Tonon L, Bergamaschi G, Dellavecchia C, Rosti V, Lucotti C, Malabarba L, et al. Unbalanced X-chromosome inactivation in haemopoietic cells from normal women. Br J Haematol 1998;102:996-1003.
6. Busque L, Mio R, Mattioli J, Brais E, Biais N, Lalonde Y, et al. Nonrandom X-inactivation patterns in normal females: iyonization ratios vary with age. Blood 1996;88:59-65.
7. Christensen K, Kristiansen M, Hagen-Larsen H, Skytthe A, Bathum L, Jeune B, et al. X-linked genetic factors regulate hematopoietic stem-cell kinetics in females. Blood 2000;95:2449-51.
8. Furuyama K, Fujita H, Nagai T, Yomogida K, Munakata H, Kondo M, et al. Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. Blood 1997;90:822-30.
9. Aivado M, Gattermann N, Bottomley S. X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia. Blood 2001;97:4000-1.
10. Plenge RM, Hendrich BD, Schwartz C, Arena JF, Naumova A, Sapienza C, et al. A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Gen 1997;17:353-6.