Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China

Abstract Alpha-thalassemia occurs with high frenquency in China. Four common α-globin gene deletion mutations (–SEA, -α3.7, and -α4.2, Haemoglobin Constant Spring (CS) mutation) were identified in Chinese patients. Individuals with alpha-thalassemia syndrome are more often of children. However repor...

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Autores principales:	Hong-Cheng Luo, Qi-Sheng Luo, Fu-Gao Huang, Chun-Fang Wang, Ye-Sheng Wei
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/4d113d96dc664994bf0921e1d2f358f9
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spelling	oai:doaj.org-article:4d113d96dc664994bf0921e1d2f358f92021-12-02T16:07:47ZImpact of genotype on endocrinal complications of Children with Alpha-thalassemia in China10.1038/s41598-017-03029-92045-2322https://doaj.org/article/4d113d96dc664994bf0921e1d2f358f92017-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-03029-9https://doaj.org/toc/2045-2322Abstract Alpha-thalassemia occurs with high frenquency in China. Four common α-globin gene deletion mutations (–SEA, -α3.7, and -α4.2, Haemoglobin Constant Spring (CS) mutation) were identified in Chinese patients. Individuals with alpha-thalassemia syndrome are more often of children. However report on endocrinal complications in children with alpha thalassemia in China are still absent. The present study aimed to investigate the impact of genotype on endocrinal complications in Chinese children. Association analysis between genotype and endocrinal compliaction development was conducted on 200 patients with 200 healthy controls. Hypogonadism was found to be the most prominent endocrinal complications (84.0%) leading to the growth retardation, hypogonadism, diabetes mellitus, hypothyroidism and hypoparathyroidism whose incidence were significantly higher in pateints. (αCSα/–SEA) was the main genotype of Alpha thalassemia identified in the patients (37.5%), and patients with the (-α4.2/–SEA) genotype had a higher prevalence of hypogonadism, diabetes mellitus and hypoparathyroidism (P = 0.001, P = 0.001, P < 0.001, respectively).Hong-Cheng LuoQi-Sheng LuoFu-Gao HuangChun-Fang WangYe-Sheng WeiNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Hong-Cheng Luo Qi-Sheng Luo Fu-Gao Huang Chun-Fang Wang Ye-Sheng Wei Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China
description	Abstract Alpha-thalassemia occurs with high frenquency in China. Four common α-globin gene deletion mutations (–SEA, -α3.7, and -α4.2, Haemoglobin Constant Spring (CS) mutation) were identified in Chinese patients. Individuals with alpha-thalassemia syndrome are more often of children. However report on endocrinal complications in children with alpha thalassemia in China are still absent. The present study aimed to investigate the impact of genotype on endocrinal complications in Chinese children. Association analysis between genotype and endocrinal compliaction development was conducted on 200 patients with 200 healthy controls. Hypogonadism was found to be the most prominent endocrinal complications (84.0%) leading to the growth retardation, hypogonadism, diabetes mellitus, hypothyroidism and hypoparathyroidism whose incidence were significantly higher in pateints. (αCSα/–SEA) was the main genotype of Alpha thalassemia identified in the patients (37.5%), and patients with the (-α4.2/–SEA) genotype had a higher prevalence of hypogonadism, diabetes mellitus and hypoparathyroidism (P = 0.001, P = 0.001, P < 0.001, respectively).
format	article
author	Hong-Cheng Luo Qi-Sheng Luo Fu-Gao Huang Chun-Fang Wang Ye-Sheng Wei
author_facet	Hong-Cheng Luo Qi-Sheng Luo Fu-Gao Huang Chun-Fang Wang Ye-Sheng Wei
author_sort	Hong-Cheng Luo
title	Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China
title_short	Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China
title_full	Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China
title_fullStr	Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China
title_full_unstemmed	Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China
title_sort	impact of genotype on endocrinal complications of children with alpha-thalassemia in china
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/4d113d96dc664994bf0921e1d2f358f9
work_keys_str_mv	AT hongchengluo impactofgenotypeonendocrinalcomplicationsofchildrenwithalphathalassemiainchina AT qishengluo impactofgenotypeonendocrinalcomplicationsofchildrenwithalphathalassemiainchina AT fugaohuang impactofgenotypeonendocrinalcomplicationsofchildrenwithalphathalassemiainchina AT chunfangwang impactofgenotypeonendocrinalcomplicationsofchildrenwithalphathalassemiainchina AT yeshengwei impactofgenotypeonendocrinalcomplicationsofchildrenwithalphathalassemiainchina
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Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China

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