Spectrum of β-Thalassemia Mutations in Some Areas of Guangxi Zhuang Autonomous Region of Southern China: A Study on a Pediatric Population Aged 0–15 Years

Autor:	Li-Fang, Huang, Li-Li, Yu, Lauriane, Nikuze, Sanjeev, Singh, Jin-Xia, Jiang, Jia-Li, Jiang, Yu-Ping, Li, Yu-Hui, Qin, Hong-Ying, Wei
Rok vydání:	2021
Předmět:	China Adolescent Genotype beta-Thalassemia Biochemistry (medical) Clinical Biochemistry Infant Newborn Infant beta-Globins Hematology Gene Frequency Child Preschool Mutation Humans Child Codon Genetics (clinical)
Zdroj:	Hemoglobin. 45:318-321
ISSN:	1532-432X 0363-0269
DOI:	10.1080/03630269.2022.2041435
Popis:	β-Thalassemia (β-thal), one of the most common form of single-gene inheritable blood diseases in the world, is highly prevalent in southern China, especially in the Guangxi Zhuang Autonomous Region. To update the β-thal mutation spectrum in this region, we performed hematological and genetic analyses on 888 β-thal major (β-TM), β-thal intermedia (β-TI) and β-thal carrier patients, aged 0-15 years old, from different parts of Guangxi Province. We identified 55 genotypes and 18 β-thal mutations. The codons 41/42 (-TTCT) (
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22edec7fb36767639aa0053e4469c16a https://doi.org/10.1080/03630269.2022.2041435 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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