Molecular characterization of α- and β-thalassemia in the Yulin region of Southern China

Gene
Sheng HeXiaoXia Qiu

Abstract

Thalassemia is one of the most common hereditary blood disorders. Epidemiological data regarding the prevalence and distribution of mutations is important for planning a thalassemia control program. To reveal the prevalence of thalassemia and mutation spectrum in the Yulin region of southern China, we screened 130,318 individuals from Yulin region by hematological and genetic analysis. Totally, 24,886 (19.10%) subjects were diagnosed with thalassemia, including 16,308 (12.51%) subjects with α-thalassemia alone, 6658 (5.11%) subjects with β-thalassemia alone and 1920 (1.47%) subjects with both α- and β-thalassemia. Ten α-thalassemia mutations were identified in the α-thalassemia subjects, with the common α-thalassemia mutations being --SEAmutation (51.91%), -α3.7(19.90%), αCSα (10.58%), -α4.2(8.13%), αWSα (7.67%). Thirteen β-thalassemia mutations and 31 genotypes were characterized in the β-thalassemia subjects. The seven common mutations [CD41-42 (-CTTT) (43.31%), CD17 (A > T) (34.58%), CD26 (G > A) (6.86%), CD71-72 (+A) (4.25%), -28 (A > G) (3.90%), IVS-II-654 (C > T) (3.53%) and IVS-I-1 (G > T) (2.22%)] accounted for 98.65% of all β-thalassemia defects. Furthermore, 6 cases of α-triplication and 3 cases of mutation -α2.4were ...Continue Reading

Citations

Sep 12, 2019·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Wenqian CaiXijiang Hu
Oct 28, 2019·Journal of Clinical Pathology·Jianlong ZhuangShuhong Zeng
Jan 8, 2020·BMC Medical Genetics·Yaowu ZhuYanjun Lu
May 1, 2020·Frontiers in Pediatrics·Ti-Long HuangXian-Wen Zhang
May 26, 2021·Annals of Human Biology·Mina EbrahimiFakher Rahim
Jul 2, 2021·International Journal of Hematology·Zhen WangYanlin Ma

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