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A comprehensive ethnic-based analysis of alpha thalassaemia allelle frequency in northern Thailand.

ABSTRACT: Alpha (?)-thalassaemia is one of the most prevalent hereditary blood disorders, commonly affecting Southeast Asian people, with the highest incidence (30-40%) being seen in northern Thailand. However, this high incidence was estimated without consideration of the variations between ethnic populations and the geographical location of the populations. To address this issue, a total of 688 samples from 13 different northern Thai ethnic groups (30 villages) categorized into three linguistic groups were genotyped for deletional alpha-thalassaemia (-?^3.7, -?^4.2, --^SEA and --^THAI) and/or non-deletional alpha-thalassaemia (?^CS and ?^PS) via multiplex gap-PCR and dot-blot hybridization, respectively. Alpha⁺(-?^3.7, -?^4.2, ?^CS and ?^PS) and alpha°-thalassaemia (--^SEA and --^THAI) allele frequencies (with 95% Confidence Interval) were the highest in the Sino-Tibetan group [0.13 (0.08-0.18)] and the Tai-Kadai group [0.03 (0.02-0.05)], respectively. With regards to ethnicity, the varying allele frequency of ?⁺ and ?°-thalassaemia amongst a variety of ethnic groups was observed. The highest ?⁺-thalassaemia allele frequency was found in the Paluang [0.21 (0.10-0.37)] while ?°-thalassaemia allele frequency was the highest in the Yuan [0.04 (0.01-0.10)]. These detailed results of alpha thalassaemia allele frequency and genetic diversity amongst the northern Thai ethnic groups demonstrate the need for ethnicity based thalassaemia prevention programs.

SUBMITTER: Kulaphisit M

PROVIDER: S-EPMC5498591 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature

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A comprehensive ethnic-based analysis of alpha thalassaemia allelle frequency in northern Thailand.

Kulaphisit Mattapong M Kampuansai Jatupol J Leecharoenkiat Kamonlak K Wathikthinnakon Methi M Kangwanpong Daoroong D Munkongdee Thongperm T Svasti Saovaros S Fucharoen Suthat S Smith Duncan R DR Lithanatudom Pathrapol P

Scientific reports 20170705 1

Alpha (α)-thalassaemia is one of the most prevalent hereditary blood disorders, commonly affecting Southeast Asian people, with the highest incidence (30-40%) being seen in northern Thailand. However, this high incidence was estimated without consideration of the variations between ethnic populations and the geographical location of the populations. To address this issue, a total of 688 samples from 13 different northern Thai ethnic groups (30 villages) categorized into three linguistic groups w ...[more]

PMID: 28680061

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Project description:Alpha-thalassaemia is inherited as an autosomal recessive disorder characterised by a microcytic hypochromic anaemia, and a clinical phenotype varying from almost asymptomatic to a lethal haemolytic anaemia.It is probably the most common monogenic gene disorder in the world and is especially frequent in Mediterranean countries, South-East Asia, Africa, the Middle East and in the Indian subcontinent. During the last few decades the incidence of alpha thalassaemia in North-European countries and Northern America has increased because of demographic changes. Compound heterozygotes and some homozygotes have a moderate to severe form of alpha thalassaemia called HbH disease. Hb Bart's hydrops foetalis is a lethal form in which no alpha-globin is synthesized. Alpha thalassaemia most frequently results from deletion of one or both alpha genes from the chromosome and can be classified according to its genotype/phenotype correlation. The normal complement of four functional alpha-globin genes may be decreased by 1, 2, 3 or all 4 copies of the genes, explaining the clinical variation and increasing severity of the disease. All affected individuals have a variable degree of anaemia (low Hb), reduced mean corpuscular haemoglobin (MCH/pg), reduced mean corpuscular volume (MCV/fl) and a normal/slightly reduced level of HbA2. Molecular analysis is usually required to confirm the haematological observations (especially in silent alpha-thalassaemia and alpha-thalassaemia trait). The predominant features in HbH disease are anaemia with variable amounts of HbH (0.8-40%). The type of mutation influences the clinical severity of HbH disease. The distinguishing features of the haemoglobin Bart's hydrops foetalis syndrome are the presence of Hb Bart's and the total absence of HbF. The mode of transmission of alpha thalassaemia is autosomal recessive. Genetic counselling is offered to couples at risk for HbH disease or haemoglobin Bart's Hydrops Foetalis Syndrome. Carriers of alpha+- or alpha0-thalassaemia alleles generally do not need treatment. HbH patients may require intermittent transfusion therapy especially during intercurrent illness. Most pregnancies in which the foetus is known to have the haemoglobin Bart's hydrops foetalis syndrome are terminated due to the increased risk of both maternal and foetal morbidity.

Dataset Information

A comprehensive ethnic-based analysis of alpha thalassaemia allelle frequency in northern Thailand.

Publications

A comprehensive ethnic-based analysis of alpha thalassaemia allelle frequency in northern Thailand.

Similar Datasets

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