Prevalences of inherited red blood cell disorders in pregnant women of different ethnicities living along the Thailand-Myanmar border

Wellcome Open Research

article

Germana Bancone¹  Mary Ellen Gilder²  Nongnud Chowwiwat²  Gornpan Gornsawun²  Elsi Win²  Win Win Cho²  Eh Moo²  Aung Myat Min²  Prakaykaew Charunwatthana³  Verena I. Carrara²  Nicholas J. White¹  Francois Nosten¹  Rose McGready¹ 

[1] Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford;Shoklo Malaria Research Unit, Mahidol–Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, , Mahidol University;Department of Clinical Tropical Medicine, Faculty of Tropical Medicine, Mahidol University;Mahidol–Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University

关键词: G6PD deficiency;    hemoglobinopathies;    blood groups;    ethnic groups;    Thailand-Myanmar border;    anemia;    pregnancy;   

DOI  :  10.12688/wellcomeopenres.12338.2

学科分类：内科医学

来源: Wellcome

【 摘 要 】

Background: Inherited red blood cell disorders are prevalent in populations living in malaria endemic areas; G6PD deficiency is associated with oxidant-induced haemolysis and abnormal haemoglobin variants may cause chronic anaemia. In pregnant women, microcytic anaemia caused by haemoglobinopathies mimics iron deficiency, complicating diagnosis and treatment. Anaemia during pregnancy is associated with morbidity and mortality. The aim of this study was to characterise the prevalence of G6PD deficiency and haemoglobinopathies  among the pregnant population living along the Thailand-Myanmar border. Pregnant women attending antenatal clinics in this area belong to several distinct ethnic groups.Methods: Data were available for 13,520 women attending antenatal care between July 2012 and September 2016. Screening for G6PD deficiency was done by fluorescent spot test routinely. G6PD genotyping and quantitative phenotyping by spectrophotometry were analysed in a subsample of women. Haemoglobin variants were diagnosed by HPLC or capillary electrophoresis and molecular methods. The prevalence and distribution of inherited red blood cell disorders was analysed with respect to ethnicity.Results: G6PD deficiency was common, especially in the Sgaw Karen ethnic group, in whom the G6PD Mahidol variant allele frequency was 20.7%. Quantitative G6PD phenotyping showed that 60.5% of heterozygous women had an intermediate enzymatic activity between 30% and 70% of the population median. HbE, beta-thalassaemia trait and Hb Constant Spring were found overall in 15.6% of women. Only 45.2% of women with low percentage of HbA2 were carriers of mutations on the alpha globin genes.Conclusions: Distribution of G6PD and haemoglobin variants varied among the different ethnic groups, but the prevalence was generally high throughout the cohort. These findings encourage the implementation of an extended program of information and genetic counselling to women of reproductive age and will help inform future studies and current clinical management of anaemia in the pregnant population in this region.

【 授权许可】

CC BY