Prevalences of inherited red blood cell disorders in pregnant women of different ethnicities living along the Thailand-Myanmar border.
Prevalences of inherited red blood cell disorders in pregnant women of different ethnicities living along the Thailand-Myanmar border.
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DOI：
10.12688/wellcomeopenres.12338.2
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发表时间：
2017
影响因子：
--
通讯作者：
McGready R
中科院分区：
文献类型：
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作者：
Bancone G;Gilder ME;Chowwiwat N;Gornsawun G;Win E;Cho WW;Moo E;Min AM;Charunwatthana P;Carrara VI;White NJ;Nosten F;McGready R
背景资料：遗传性红细胞疾病在疟疾流行地区的人群中普遍存在; G6 PD缺乏症与氧化剂诱导的溶血有关，异常血红蛋白变体可能导致慢性贫血。在孕妇中，由血红蛋白病引起的小红细胞贫血类似于缺铁，使诊断和治疗复杂化。怀孕期间贫血与发病率和死亡率有关。本研究的目的是调查居住在泰缅边境沿着的孕妇中G6 PD缺乏症和血红蛋白病的患病率。在该地区接受产前检查的孕妇属于几个不同的族裔群体。 方法：数据来自2012年7月至2016年9月期间接受产前护理的13，520名妇女。常规荧光斑点试验筛查G6 PD缺乏症。G6 PD基因分型和分光光度法定量表型分析的一个子样本的妇女。血红蛋白变体通过HPLC或毛细管电泳和分子方法进行诊断。遗传性红细胞疾病的患病率和分布进行了种族分析。 结果：G6 PD缺乏症在缅甸人群中普遍存在，尤其在Sgaw Karen族人群中，G6 PD Mahidol变异等位基因频率为20.7%。定量G6 PD表型分析表明，60.5%的杂合子妇女有一个中间酶活性之间的30%和70%的人口中位数。在15.6%的女性中发现了HbE、β-地中海贫血性状和Hb恒定弹簧。只有45.2%的HbA 2低的妇女是α珠蛋白基因突变的携带者。 结论：G6 PD和血红蛋白变体的分布在不同种族之间存在差异，但整个队列的患病率普遍较高。这些研究结果鼓励实施一个扩展的信息和遗传咨询方案，以育龄妇女，并将有助于告知未来的研究和目前的临床管理贫血在怀孕人口在这一地区。
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 HbA 2 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.