Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China

Abstract

Accurate and up-to-date data on the frequency of haemoglobinopathies among the populations of Guangxi Zhuang Autonomous Region, where haemoglobinopathies are most endemic in China, are required. In our study, a total of 5789 samples obtained from members of the Han, Zhang, and Yao ethnic groups in six geographical areas of Guangxi Province were analysed systematically in terms of both haematological and molecular parameters. The results presented that the total heterozygote frequency of thalassaemias and other haemoglobinopathies was 24.51%, of which 17.55% was due to alpha-thalassaemia, 6.43% to beta-thalassaemia, 0.38% to structural haemoglobin variants, and 0.16% to delta-thalassaemia. The mutational spectrum among the local population for each type of disorder was described, including the first report on the true prevalence of three silent alpha thalassemia defects, -alpha(3.7)/(4.78%), -alpha(4.2)/(1.61%) and Hb Westmead (alpha(WS)alpha/) (1.57%) and of delta-thalassemia resulting from five novel and two rare mutations never before identified in Chinese individuals. Comparison of the frequencies of alpha-globin mutations among the ethnic groups showed that there was a statistically significant difference between the Han (15.71%) and Zhuang (20.12%), and between the Han (15.71%) and Yao (20.84%) ethnic groups. In addition, we have performed the first extensive study of haematological parameters of the Hb Westmead mutation using a group of Chinese subjects with compound heterozygosity for this variant and an alpha-thalassaemia deletion. The knowledge gained in this study will enable us to estimate the health burden in this high-risk population and to elucidate the various genetic alterations that underlie haemoglobinopathies.

A Melting Curve Analysis–Based PCR Assay for One-Step Genotyping of β-Thalassemia Mutations

“…3,4 In China, the estimated incidence of carriers of ␤-thalassemia is as high as 7% in the Guangxi Province, and 1% to 6% in populations elsewhere in the endemic areas of southern China. [5][6][7][8] ␤-Thalassemia is a severe disease, and its treatment requires many resources, both medical and financial. While many cities in China have facilities for diagnosis and treatment of this disease, free medical services are not provided by the government in most rural areas.…”

“…To date, 45 single-nucleotide mutations and small deletions in HBB have been detected in the Chinese population. [5][6][7][8][9][10] Translation of the data into clinical practice requires a simple, reliable, cost-effective method that is able to detect all of these mutations. Among dozens of methods that have been developed for detecting ␤-thalassemia mutations, [11][12][13] reverse dot blot (RDB) analysis is the only method approved in China.…”

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

“…HbCS was detected in two patients for the first time in Turkey. -SEA deletion, the most frequent alpha-thalassemia mutation in China and Southeast Asia, was detected in only two patients [27,28].…”

Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin

“…19,20 The ζ globin chain level was determined using a previously described method. 21 The expression of cluster of differentiation (CD)44 in mature erythrocytes was assessed by flow cytometry.…”