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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Lunliya Thampratankul
Yusuke Okuno
Patcharee Komvilaisak
Duangrurdee Wattanasirichaigoon
Nongnuch Sirachainan


Alpha thalassemia, RNF213 p.R4810K, PROC p.R189W, moyamoya


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1. Scott RM, Smith ER. Moyamoya disease and moyamoya syndrome. N Engl J Med 2009; 360(12):1226-1237.
2. 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.
3. Vichinsky EP. Clinical manifestations of α-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011742.
4. 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.
5. 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.
6. 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.
7. Bonduel M, Hepner M, Sciuccati G, Torres AF, Tenembaum S. Prothrombotic disorders in children with moyamoya syndrome. Stroke. 2001;32(1):1786-1792.