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24.08.2017 | Letter to the Editor

A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review

verfasst von: Tohru Fujiwara, Noriko Fukuhara, Satoshi Ichikawa, Masahiro Kobayashi, Yoko Okitsu, Yasushi Onishi, Kazumichi Furuyama, Hideo Harigae

Erschienen in: Annals of Hematology | Ausgabe 11/2017

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Dear Editor, …

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Ohba R, Furuyama K, Yoshida K, Fujiwara T, Fukuhara N, Onishi Y, Manabe A, ItoE OK, Kojima S, Ogawa S, Harigae H (2013) Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). Ann Hematol 92:1–9. doi:10.1007/s00277-012-1564-5 CrossRefPubMed

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 96:2090–2096

Cazzola M, May A, Bergamaschi G, Cerani P, Rosti V, Bishop DF (2000) Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. Blood 96:4363–4365PubMed

Cazzola M, Malcovati L (2015) Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing. Hematology Am Soc Hematol Educ Program 2015:19–25. doi:10.1182/asheducation-2015.1.19 PubMed

Kadirvel S, Furuyama K, Harigae H, Kaneko K, Tamai Y, Ishida Y, Shibahara S (2012) The carboxyl-terminal region of erythroid-specific 5-aminolevulinate synthase acts as an intrinsic modifier for its catalytic activity and protein stability. Exp Hematol 40:477–486. doi:10.1016/j.exphem.2012.01.013 CrossRefPubMed

Katsurada T, Kawabata H, Kawabata D, Kawahara M, Nakabo Y, Takaori-Kondo A, Yoshida Y (2016) A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. Int J Hematol 103:713–717. doi:10.1007/s12185-016-1949-7 CrossRefPubMed

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10.

Takahashi N, Kameoka J, Takahashi N, Tamai Y, Murai K, Honma R, Noji H, Yokoyama H, Tomiya Y, Kato Y, Ishizawa K, Ito S, Ishida Y, Sawada K, Harigae H (2016) Causes of macrocytic anemia among 628 patients: mean corpuscular volumes of 114and 130 f. as critical markers for categorization. Int J Hematol 104:344–357. doi:10.1007/s12185-016-2043-x CrossRefPubMed

Titel: A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review
verfasst von: Tohru Fujiwara
Noriko Fukuhara
Satoshi Ichikawa
Masahiro Kobayashi
Yoko Okitsu
Yasushi Onishi
Kazumichi Furuyama
Hideo Harigae
Publikationsdatum: 24.08.2017
Verlag: Springer Berlin Heidelberg
Erschienen in: Annals of Hematology / Ausgabe 11/2017
Print ISSN: 0939-5555
Elektronische ISSN: 1432-0584
DOI: https://doi.org/10.1007/s00277-017-3106-7

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A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review

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