التفاصيل البيبلوغرافية
| العنوان: |
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. |
| المؤلفون: |
Huang, Li-Fang, Yu, Li-Li, Nikuze, Lauriane, Singh, Sanjeev, Jiang, Jin-Xia, Jiang, Jia-Li, Li, Yu-Ping, Qin, Yu-Hui, Wei, Hong-Ying |
| المصدر: |
Hemoglobin; Sep2021, Vol. 45 Issue 5, p318-321, 4p |
| مصطلحات موضوعية: |
CHILD patients, POPULATION aging, CHINA studies, GENETIC counseling, GENETIC mutation, SOMATIC mutation |
| مصطلحات جغرافية: |
GUANGXI Zhuangzu Zizhiqu (China), CHINA |
| مستخلص: |
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) (HBB: c.126_129delCTTT) (43.97%), codon 17 (A>T) (HBB: c.52A>T) (25.43%), −28(A>G) (HBB: c.-78A>G) (8.18%), IVS-II-654 (C>T) (HBB: c.316-197C>T) (7.85%) and codon 26 (G>A) (HBB: c.79G>A) (5.02%) were the five most common, accounting for more than 90.0%. The results of our study are providing an up-to-date β-thal mutation spectrum in the 0–15-year-old pediatric population, which will help genetic counseling and prevention of β-TM in mainland China's most endemic region, Guangxi Zhuang Autonomous Region. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
