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Annals of Hematology
Published in: Annals of Hematology 2/2020

01-02-2020 | Erythropoietin | Letter to the Editor

Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia

Authors: Yu Qiu, Hao Cai, Lijia Cui, Ying-xian Liu, Yi-ning Wang, Jian Li, Xin-xin Cao

Published in: Annals of Hematology | Issue 2/2020

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Excerpt

Dear Editor, …
Literature
1.
Cotter PD, Rucknagel DL, Bishop DF (1994) X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Blood 84(11):3915–3924CrossRef
2.
Cotter PD, May A, Li L, Al-Sabah AI, Fitzsimons EJ, Cazzola M, Bishop DF (1999) Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. Blood 93(5):1757–1769CrossRef
3.
4.
Peto TE, Pippard MJ, Weatherall DJ (1983) Iron overload in mild sideroblastic anaemias. Lancet (London, England) 1(8321):375–378CrossRef
5.
6.
Cotter PD, May A, Fitzsimons EJ, Houston T, Woodcock BE, al-Sabah AI, Wong L, Bishop DF (1995) 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 96(4):2090–2096. https://​doi.​org/​10.​1172/​jci118258 CrossRefPubMedPubMedCentral
7.
8.
Metadata
Title
Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia
Authors
Yu Qiu
Hao Cai
Lijia Cui
Ying-xian Liu
Yi-ning Wang
Jian Li
Xin-xin Cao
Publication date
01-02-2020
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology / Issue 2/2020
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-019-03894-6

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Keynote webinar | Spotlight on medication adherence

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WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

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