Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China

Autor:	Deng-Cheng Cao, Li-Ye Yang, Bing-Rong Xue, Min Lin, Xia Yu, Hui-Tian Yang, Jian Li, Hui Yang, Xiao-Fen Zhan, Wei Shen, Cheng-Gui Liu
Rok vydání:	2015
Předmět:	Adult China medicine.medical_specialty Adolescent Hereditary persistence of fetal hemoglobin Thalassemia Clinical Biochemistry Prenatal diagnosis beta-Globins Biology Southeast asian Gastroenterology Young Adult Gene Frequency alpha-Globins Internal medicine Epidemiology medicine Humans Mass Screening Allele frequency Alleles Genetics (clinical) Mass screening Genetics medicine.diagnostic_test Biochemistry (medical) Complete blood count Hematology Middle Aged medicine.disease Population Surveillance Mutation
Zdroj:	Hemoglobin. 39:393-397
ISSN:	1532-432X 0363-0269
Popis:	Thalassemia is the most common inherited disease in southern China. However, this disorder is usually ignored by the health system in the Sichuan Province due to the lack of epidemiological data. To provide basic epidemiological data for thalassemia screening, genetic counseling, and prenatal diagnosis (PND) in the Chengdu region, a total of 3262 healthy subjects were assessed by complete blood count (CBC), reverse dot-blot gene chip, gap-polymerase chain reaction (gap-PCR), and PCR-DNA sequencing. A frequency of heterozygous thalassemia of 3.43% (112/3262) was found, of which 2.21% (72/3262) patients carried α-thalassemia (α-thal), 1.19% (39/3262) β-thalassemia (β-thal) and 0.3% (1/3262) hereditary persistence of fetal hemoglobin (Hb) (HPFH)/δβ-thalassemia (δβ-thal). Four types of α-thal mutations were found, the most prevalent being - -(SEA) (68.06%), followed by -α(3.7) (rightward deletion, 25.0%), Hb Quong Sze (Hb QS; HBA2: c.377 T > C) (4.17%), and -α(4.2) (leftward deletion, 2.78%). The seven β-thal mutations included: codons 41/42 (-TTCT), HBB: c.126_129delCTTT (13/39, 33.33%); codon 17 (A > T), HBB: c.52 A > T (11/39, 28.95%); IVS-II-654 (C > T), HBB: c.316-197 C > T (9/39, 23.68%); -28 (A > G), HBB: c.-78 A > G (3/39, 7.69%); -29 (A > G), HBB: c.-79 A > G (1/39, 2.56%); codons 27/28 (+C), HBB: c.84_85insC (1/39, 2.56%), and the rare IVS-II-850 (G > T), HBB: c.316-1 G > T (1/39, 2.56%). Only one case of the Southeast Asian HPFH deletion was found. This is the first detailed molecular epidemiological survey of thalassemia in the Chengdu region, Sichuan Province, People's Republic of China (PRC).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b0e8cbc9c0dc2e491d2055581844471 https://doi.org/10.3109/03630269.2015.1070733 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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