DOI: 10.1046/j.1365-2141.1999.01142.x. Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations

Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations

10.1046/j.1365-2141.1999.01142.x

Crossref journal-article

Wiley

British Journal of Haematology (311)

Abstract

Forty Caucasian patients with primary acquired sideroblastic anaemia (SA), were investigated for the presence of the Cys282Tyr and/or His63Asp mutation as possible cofactor(s) for iron overload. One patient was heterozygous for the Cys282Tyr mutation and 13 heterozygotes and one homozygote for the His63Asp mutation were found (no difference compared with controls). SA patients with normal codon 63 had a mean ferritin level of 923 ± 815 μg/l whereas those with codon 63 mutation had 769 ± 577 μg/l (P = 0.64). We conclude that ineffective erythropoiesis with no associated mutation in the HFE gene can lead to iron overload in SA patients.

Bibliography

Beris, P., Samii, K., Darbellay, R., Zoumbos, N., Tsoplou, P., Kourakli, A., PreudâHomme, C., & Fenaux, P. (1999). Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations. British Journal of Haematology, 104(1), 97â99. Portico.

Authors 8

P. Beris (first)
K. Samii (additional)
R. Darbellay (additional)
N. Zoumbos (additional)
P. Tsoplou (additional)
A. Kourakli (additional)
C. Preud'Homme (additional)
P. Fenaux (additional)

References 12 Referenced 18

10.1006/bcmd.1996.0027
{'issue': '1', 'key': 'e_1_2_6_3_2', 'first-page': '103', 'article-title': 'X‐linked sideroblastic anemia: update of molecular defects and mechanism of the associated iron overload. (Abstract)', 'volume': '98', 'author': 'Bottomley S.S.', 'year': '1997', 'journal-title': 'Acta Hematologica'} / Acta Hematologica / X‐linked sideroblastic anemia: update of molecular defects and mechanism of the associated iron overload. (Abstract) by Bottomley S.S. (1997)
10.1172/JCI109785
10.1182/blood.V71.2.305.305
10.1038/ng0896-399
10.1182/blood.V90.12.4961
10.1182/blood.V89.6.2079
10.1038/ng1196-251
10.1182/blood.V90.8.3234 / Blood / Nontransfusional iron overload in thalassemia: association with hereditary hemochromatosis by Rees D.C. (1997)
10.1016/S0140-6736(96)09436-6
10.1111/j.1365-2141.1985.tb07379.x
10.1016/S0140-6736(05)63756-7

Dates

Type	When
Created	22 years, 5 months ago (March 11, 2003, 1:08 a.m.)
Deposited	1 year, 9 months ago (Oct. 28, 2023, 8:31 a.m.)
Indexed	3 weeks, 3 days ago (July 30, 2025, 11:13 a.m.)
Issued	26 years, 7 months ago (Jan. 1, 1999)
Published	26 years, 7 months ago (Jan. 1, 1999)
Published Online	20 years, 6 months ago (Feb. 8, 2005)
Published Print	26 years, 7 months ago (Jan. 1, 1999)

Funders 0

None

BibTeX

@article{Beris_1999, title={Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations}, volume={104}, ISSN={1365-2141}, url={http://dx.doi.org/10.1046/j.1365-2141.1999.01142.x}, DOI={10.1046/j.1365-2141.1999.01142.x}, number={1}, journal={British Journal of Haematology}, publisher={Wiley}, author={Beris, P. and Samii, K. and Darbellay, R. and Zoumbos, N. and Tsoplou, P. and Kourakli, A. and Preud’Homme, C. and Fenaux, P.}, year={1999}, month=jan, pages={97–99} }

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