A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review-Reference-Cited by-同舟云学术

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

Published:2017-08-24 Issue:11 Volume:96 Page:1955-1957
ISSN:0939-5555
Container-title:Annals of Hematology
language:en
Short-container-title:Ann Hematol

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Hematology,General Medicine

Link

http://link.springer.com/article/10.1007/s00277-017-3106-7/fulltext.html

Reference10 articles.

1. Bottomley SS, Fleming MD (2014) Sideroblastic anemia: diagnosis and management. Hematol Oncol Clin North Am 28:653–670. doi: 10.1016/j.hoc.2014.04.008

2. Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R, Sato Y, Sato-Otsubo A, Kon A, Nagasaki M, Chalkidis G, Suzuki Y, Shiosaka M, Kawahata R, Yamaguchi T, Otsu M, Obara N, Sakata-Yanagimoto M, Ishiyama K, Mori H, Nolte F, Hofmann WK, Miyawaki S, Sugano S, Haferlach C, Koeffler HP, Shih LY, Haferlach T, Chiba S, Nakauchi H, Miyano S, Ogawa S (2011) Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 478:64–69. doi: 10.1038/nature10496

3. 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

4. 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

5. 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 96:4363–4365

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients;Annals of Hematology;2024-08-28

2. Identification of differentially expressed genes and enriched pathways in inflammatory bowel disease using bioinformatics and next generation sequencing data analysis;2023-06-05

3. Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis;Scientific Reports;2022-05-30

4. Structural basis for dysregulation of aminolevulinic acid synthase in human disease;Journal of Biological Chemistry;2022-03

5. X-linked sideroblastic anaemia in a female fetus: a case report and a literature review;BMC Medical Genomics;2021-12