The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China. Yao, H., Chen, X., Lin, L., Wu, C., Fu, X., Wang, H., Yao, Z., Chen, W., Huang, L., Tang, R., Ruimei Tang, Rao, R., Wang, S., & Ding, Y. Blood Cells Molecules and Diseases, 53(1):16–20, June, 2014. MAG ID: 2029806317doi abstract bibtex Abstract This study examines the frequency and spectrum of α- and β-thalassemia (thal) mutations of the Li people in Hainan Province of China. We have analyzed by genotyping a sample of 8600 subjects of the Li people and found that 53.45% subjects have only α-thal mutations with high frequencies of −α4.2 and −α3.7, but fewer −−SEA mutation; 3.83% have β-thal mutations all identified to be 41/42 (−TCTT); whereas 7.99% carry both α-thal and β-thal mutations. We also examined 9800 subjects of the Han people, and the result showed 12.16% subjects have only α-thal mutations with −−SEA and −α3.7 the most frequent mutation types, 6.11% have only β-thal mutations of 7 types, whereas 4.85% carry both α-thal and β-thal mutations. Our study demonstrated that the Li people in Hainan province have a high incidence of −α4.2 and −α3.7 thalassemia, low frequencies of α-thal −SEA, and a novel β mutation, 41/42 (−TCTT). We provide the complete spectrum of α-thal and β-thal mutations and a strategy for accurate molecular diagnostic testing in the Li people in Hainan Province of Southern China.
@article{yao_spectrum_2014,
title = {The spectrum of α- and β-thalassemia mutations of the {Li} people in {Hainan} {Province} of {China}.},
volume = {53},
doi = {10.1016/j.bcmd.2014.01.003},
abstract = {Abstract This study examines the frequency and spectrum of α- and β-thalassemia (thal) mutations of the Li people in Hainan Province of China. We have analyzed by genotyping a sample of 8600 subjects of the Li people and found that 53.45\% subjects have only α-thal mutations with high frequencies of −α4.2 and −α3.7, but fewer −−SEA mutation; 3.83\% have β-thal mutations all identified to be 41/42 (−TCTT); whereas 7.99\% carry both α-thal and β-thal mutations. We also examined 9800 subjects of the Han people, and the result showed 12.16\% subjects have only α-thal mutations with −−SEA and −α3.7 the most frequent mutation types, 6.11\% have only β-thal mutations of 7 types, whereas 4.85\% carry both α-thal and β-thal mutations. Our study demonstrated that the Li people in Hainan province have a high incidence of −α4.2 and −α3.7 thalassemia, low frequencies of α-thal −SEA, and a novel β mutation, 41/42 (−TCTT). We provide the complete spectrum of α-thal and β-thal mutations and a strategy for accurate molecular diagnostic testing in the Li people in Hainan Province of Southern China.},
number = {1},
journal = {Blood Cells Molecules and Diseases},
author = {Yao, Hong-Xia and Chen, Xinping and Lin, Li-E and Wu, Cong-Ming and Fu, Xiangjun and Wang, Hua and Yao, Zhi-Ming and Chen, Wenting and Huang, Li and Tang, Rui-Mei and {Ruimei Tang} and Rao, Ruo and Wang, Suwen and Ding, Yipeng},
month = jun,
year = {2014},
doi = {10.1016/j.bcmd.2014.01.003},
pmid = {24534675},
note = {MAG ID: 2029806317},
pages = {16--20},
}
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We also examined 9800 subjects of the Han people, and the result showed 12.16% subjects have only α-thal mutations with −−SEA and −α3.7 the most frequent mutation types, 6.11% have only β-thal mutations of 7 types, whereas 4.85% carry both α-thal and β-thal mutations. Our study demonstrated that the Li people in Hainan province have a high incidence of −α4.2 and −α3.7 thalassemia, low frequencies of α-thal −SEA, and a novel β mutation, 41/42 (−TCTT). We provide the complete spectrum of α-thal and β-thal mutations and a strategy for accurate molecular diagnostic testing in the Li people in Hainan Province of Southern China.","number":"1","journal":"Blood Cells Molecules and Diseases","author":[{"propositions":[],"lastnames":["Yao"],"firstnames":["Hong-Xia"],"suffixes":[]},{"propositions":[],"lastnames":["Chen"],"firstnames":["Xinping"],"suffixes":[]},{"propositions":[],"lastnames":["Lin"],"firstnames":["Li-E"],"suffixes":[]},{"propositions":[],"lastnames":["Wu"],"firstnames":["Cong-Ming"],"suffixes":[]},{"propositions":[],"lastnames":["Fu"],"firstnames":["Xiangjun"],"suffixes":[]},{"propositions":[],"lastnames":["Wang"],"firstnames":["Hua"],"suffixes":[]},{"propositions":[],"lastnames":["Yao"],"firstnames":["Zhi-Ming"],"suffixes":[]},{"propositions":[],"lastnames":["Chen"],"firstnames":["Wenting"],"suffixes":[]},{"propositions":[],"lastnames":["Huang"],"firstnames":["Li"],"suffixes":[]},{"propositions":[],"lastnames":["Tang"],"firstnames":["Rui-Mei"],"suffixes":[]},{"firstnames":[],"propositions":[],"lastnames":["Ruimei Tang"],"suffixes":[]},{"propositions":[],"lastnames":["Rao"],"firstnames":["Ruo"],"suffixes":[]},{"propositions":[],"lastnames":["Wang"],"firstnames":["Suwen"],"suffixes":[]},{"propositions":[],"lastnames":["Ding"],"firstnames":["Yipeng"],"suffixes":[]}],"month":"June","year":"2014","pmid":"24534675","note":"MAG ID: 2029806317","pages":"16–20","bibtex":"@article{yao_spectrum_2014,\n\ttitle = {The spectrum of α- and β-thalassemia mutations of the {Li} people in {Hainan} {Province} of {China}.},\n\tvolume = {53},\n\tdoi = {10.1016/j.bcmd.2014.01.003},\n\tabstract = {Abstract This study examines the frequency and spectrum of α- and β-thalassemia (thal) mutations of the Li people in Hainan Province of China. We have analyzed by genotyping a sample of 8600 subjects of the Li people and found that 53.45\\% subjects have only α-thal mutations with high frequencies of −α4.2 and −α3.7, but fewer −−SEA mutation; 3.83\\% have β-thal mutations all identified to be 41/42 (−TCTT); whereas 7.99\\% carry both α-thal and β-thal mutations. We also examined 9800 subjects of the Han people, and the result showed 12.16\\% subjects have only α-thal mutations with −−SEA and −α3.7 the most frequent mutation types, 6.11\\% have only β-thal mutations of 7 types, whereas 4.85\\% carry both α-thal and β-thal mutations. Our study demonstrated that the Li people in Hainan province have a high incidence of −α4.2 and −α3.7 thalassemia, low frequencies of α-thal −SEA, and a novel β mutation, 41/42 (−TCTT). We provide the complete spectrum of α-thal and β-thal mutations and a strategy for accurate molecular diagnostic testing in the Li people in Hainan Province of Southern China.},\n\tnumber = {1},\n\tjournal = {Blood Cells Molecules and Diseases},\n\tauthor = {Yao, Hong-Xia and Chen, Xinping and Lin, Li-E and Wu, Cong-Ming and Fu, Xiangjun and Wang, Hua and Yao, Zhi-Ming and Chen, Wenting and Huang, Li and Tang, Rui-Mei and {Ruimei Tang} and Rao, Ruo and Wang, Suwen and Ding, Yipeng},\n\tmonth = jun,\n\tyear = {2014},\n\tdoi = {10.1016/j.bcmd.2014.01.003},\n\tpmid = {24534675},\n\tnote = {MAG ID: 2029806317},\n\tpages = {16--20},\n}\n\n","author_short":["Yao, H.","Chen, X.","Lin, L.","Wu, C.","Fu, X.","Wang, H.","Yao, Z.","Chen, W.","Huang, L.","Tang, R.","Ruimei Tang","Rao, R.","Wang, S.","Ding, Y."],"key":"yao_spectrum_2014","id":"yao_spectrum_2014","bibbaseid":"yao-chen-lin-wu-fu-wang-yao-chen-etal-thespectrumofandthalassemiamutationsofthelipeopleinhainanprovinceofchina-2014","role":"author","urls":{},"metadata":{"authorlinks":{}},"html":""},"bibtype":"article","biburl":"https://bibbase.org/zotero/kountour","dataSources":["MnayAXw3qciX87bz7"],"keywords":[],"search_terms":["spectrum","thalassemia","mutations","people","hainan","province","china","yao","chen","lin","wu","fu","wang","yao","chen","huang","tang","ruimei tang","rao","wang","ding"],"title":"The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China.","year":2014}