Scientific Letters
Vol. 14 No. 1 (2022): Review Articles, Original Article, Scientific Letter, Case Reports Letter to the Editor
Identification of Alpha Thalassemia, RNF 213 p.R4810K and PROC p.R189W among Children with Moyamoya Disease/Syndrome
Alpha Thalassemia and RNF 213 Gene Mutation in Moyamoya
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: March 31, 2022
Accepted: May 11, 2022
Accepted: May 11, 2022
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Citations
Scott RM, Smith ER. Moyamoya disease and moyamoya syndrome. N Engl J Med 2009; 360(12):1226-1237. https://doi.org/10.1056/NEJMra0804622
Liao X, Deng J, Dai W, Zhang T, Yan J. Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review. Environ Health Prev Med 2017;22(1):75. https://doi.org/10.1186/s12199-017-0680-1
Vichinsky EP. Clinical manifestations of α-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011742. https://doi.org/10.1101/cshperspect.a011742
Zahedpanah M, Azarkeivan A, Aghaieepour M, Nikogoftar M, Ahmadinegad M, Hajibeigi B, et al. Erythrocytic phosphatidylserine exposure and hemostatic alterations in β-thalassemia intermediate patients. Hematology 2014;19(8):472-476. https://doi.org/10.1179/1607845413Y.0000000148
Ding Q, Yang L, Hassanian SM, Rezaie AR. Expression and functional characterisation of natural R147W and K150del variants of protein C in the Chinese population. Thromb Haemost 2013;109(4):614-624. https://doi.org/10.1160/TH12-10-0760
Sirachainan N, Chuansumrit A, Sasanakul W, Yudhasompop N, Mahaklan L, Vaewpanich J, et al. R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children. Clin Appl Thromb Hemost. 2018;24(2):263-267. https://doi.org/10.1177/1076029617709085
Bonduel M, Hepner M, Sciuccati G, Torres AF, Tenembaum S. Prothrombotic disorders in children with moyamoya syndrome. Stroke. 2001;32(1):1786-1792. https://doi.org/10.1161/01.str.32.8.1786
How to Cite
“Identification of Alpha Thalassemia, RNF 213 p.R4810K and PROC p.R189W among Children with Moyamoya Disease/Syndrome: Alpha Thalassemia and RNF 213 Gene Mutation in Moyamoya” (2022) Mediterranean Journal of Hematology and Infectious Diseases, 14(1), p. e2022057. doi:10.4084/MJHID.2022.057.
Copyright (c) 2022 Lunliya Thampratankul, Yusuke Okuno, Patcharee Komvilaisak, Duangrurdee Wattanasirichaigoon, Nongnuch Sirachainan
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