|
|
 Previous Article | Table of Contents | Next Article 
Blood, 15 December 2000, Vol. 96, No. 13, pp. 4363-4365
BRIEF REPORT
Familial-skewed X-chromosome inactivation as a predisposing
factor for late-onset X-linked sideroblastic anemia in
carrier females
Mario Cazzola,
Alison May,
Gaetano Bergamaschi,
Paola Cerani,
Vittorio Rosti, and
David F. Bishop
From the Department of Hematology and the
Department of Internal Medicine and Medical Therapy, University of
Pavia Medical School, and Instituto di Ricovero e Cura a Carattere
Scientifico (IRCCS) Policlinico S. Matteo, Pavia, Italy; the Department
of Haematology, University of Wales College of Medicine, Cardiff,
Wales; and the Department of Human Genetics, Mount Sinai School of
Medicine, New York, NY.
X-linked sideroblastic anemia (XLSA) is caused by mutations in the
erythroid-specific 5-aminolevulinic acid synthase
(ALAS2) gene. An elderly woman who
presented with an acquired sideroblastic anemia is studied. Molecular
analysis revealed that she was heterozygous for a missense mutation in
the ALAS2 gene, but she expressed only the mutated gene in
reticulocytes. Her 2 daughters and a granddaughter were heterozygous
for this mutation, had normal hemoglobin levels, and expressed the
normal ALAS2 gene in reticulocytes. A grandson with a
previous diagnosis of thalassemia intermedia was found to be hemizygous
for the ALAS2 mutation. Treatment with pyridoxine completely corrected the anemia both in the proband and her grandson. All women who were analyzed in this family showed skewed X-chromosome inactivation in leukocytes, which indicated a hereditary condition associated with unbalanced lyonization. Because the preferentially active X chromosome carried the mutant ALAS2 allele,
acquired skewing in the elderly likely worsened the genetic condition
and abolished the normal ALAS2 allele expression in the proband.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
Related Letter in Blood Online:
-
X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia
- Manuel Aivado, Norbert Gattermann, Sylvia Bottomley, Mario Cazzola, and Gaetano Bergamaschi
Blood 2001 97: 4000-4002.
[Full Text]
[PDF]
This article has been cited by other articles:
|
|
|
|
 
S. Bekri, A. May, P. D. Cotter, A. I. Al-Sabah, X. Guo, G. S. Masters, and D. F. Bishop
A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia
Blood,
July 15, 2003;
102(2):
698 - 704.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
K. Furuyama, H. Harigae, C. Kinoshita, T. Shimada, K. Miyaoka, C. Kanda, Y. Maruyama, S. Shibahara, and S. Sassa
Late-onset X-linked sideroblastic anemia following hemodialysis
Blood,
June 1, 2003;
101(11):
4623 - 4624.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. Cazzola, R. Invernizzi, G. Bergamaschi, S. Levi, B. Corsi, E. Travaglino, V. Rolandi, G. Biasiotto, J. Drysdale, and P. Arosio
Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia
Blood,
March 1, 2003;
101(5):
1996 - 2000.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. Cazzola, A. May, G. Bergamaschi, P. Cerani, S. Ferrillo, and D. F. Bishop
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation
Blood,
December 1, 2002;
100(12):
4236 - 4238.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. Aivado, N. Gattermann, S. Bottomley, M. Cazzola, and G. Bergamaschi
X chromosome inactivation ratios in female carriers of X-linked sideroblastic anemia
Blood,
June 15, 2001;
97(12):
4000 - 4002.
[Full Text]
[PDF]
|
|
|
|
|
