Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China

PloS One
Min LinLi Ye Yang

Abstract

Thalassemia is the most common inherited disease in southern China. However, this disorder is usually ignored by Jiangxi provincial health system and government due to lack of epidemiological data. A total of 9489 samples from Hakka Han and Gan-speaking Han in three geographical areas of Jiangxi Province were analyzed for both complete blood cell (CBC) count and reverse dot blot (RDB) gene chip for thalassemia. 1182 cases of suspected thalassemia carriers with microcytosis (MCV<82 fL) were found by CBC count, and were tested by RDB gene chip to reveal a total of 594 mutant chromosomes, including 433 α-thalassemia mutant chromosomes and 172 β-thalassemia mutant chromosomes. Our results indicated a higher prevalence of thalassemia with the heterozygote frequency of 9.49% in southern Jiangxi province, whereas the low frequency was found in middle (3.90%) and northern Jiangxi (2.63%). Based on the epidemiological data, the estimated numbers of pregnancies in Jiangxi province in which the fetus is at risk for β-thalassemia major or intermedia, Bart's hydrops fetalis and Hb H disease are 34 (95% CI, 16 to 58), 79 (95% CI, 50 to 114) and 39 (95% CI, 27 to 58) per year, respectively. We suggested that prevention network of thalassemia ...Continue Reading

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Citations

Oct 1, 2019·Molecular Genetics & Genomic Medicine·Haoxian LiXiaofang Sun
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
Sep 5, 2020·European Journal of Haematology·Antonis KattamisVip Viprakasit
May 23, 2019·BMC Medical Genetics·Zhuo YangBing Han

Related Concepts

Complete Blood Count
Repeated Rounds of Survey
Alpha-Thalassemia
Thalassemia Minor
Cost of Illness
Genetic Epidemiology
Healthy Volunteers
Blood Cells
Southern Blot Assay (Procedure)
Western Blotting

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