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阿曼苏丹国的遗传性血液疾病调查。

Genetic Blood Disorders Survey in the Sultanate of Oman.

作者信息

Al-Riyami Asya, Ebrahim G J

机构信息

Ministry of Health, Sultanate of Oman.

出版信息

J Trop Pediatr. 2003 Jul;49 Suppl 1:i1-20.

Abstract

The Genetic Blood Disorders Survey is the first community-based survey in the Arabic world and the Middle East to determine the prevalence of the most common genetic blood disorders. The objective of the survey was to determine the prevalence of the most common genetic blood disorders reported among Omani children under 5 years of age in order to provide the planners and policy-makers with reliable information suitable for formulating health policies, planning, and evaluation. The survey was designed, executed, and financed by the Ministry of Health of the Sultanate of Oman. To reduce costs and save effort and time, data collection for the survey was implemented with the Gulf Family Health Survey (GFHS). The GFHS in the Sultanate of Oman is a research project undertaken by the Council of Health Ministers of the Gulf Co-operation Council States. The six member countries have participated in this GFHS project. A total of 6103 households were interviewed. From these households 6342 children under 5 years of age were taken by their parents to neighbourhood hospitals or health centres for blood collection. Fifty-one per cent of the sample were male and 49 per cent were female. Among the child respondents, 17.9 per cent were in the age group 0 to < 1 year, 20.3 per cent were in the age group 1 to < 2 years, 21.1 per cent were in the age group 2 to < 3 years, 20.5 per cent were in the age group 3 to < 4 years, and 20.2 per cent were in the age group 4 to 5 years. Fifty-five per cent of the mothers of the children studied were illiterate, 9 per cent could read and write but had less than primary education, 20 per cent had completed primary school, 9 per cent had attended preparatory school, 5 per cent had attended secondary school, 1 per cent had had intermediate education, while 0.6 per cent had completed university or higher education. The results of this survey revealed that haemoglobinopathies are prevalent in Oman; the prevalence of sickle cell trait was 6 per cent, and of beta-thalassaemia 2 per cent. The prevalence of sickle cell and homozygous beta-thalassaemia were 0.2 and 0.07 per cent, respectively. Other abnormal haemoglobins (Hb) have been detected in this survey; HbD (0.6 per cent), HbE (0.3 per cent), HbC (0.02 per cent). Combination of sickle cell with other abnormal Hb was also detected at low prevalence. Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency had a high prevalence in Oman, being 25 per cent in males and 10 per cent in females. Among the children studied, three-quarters (74.5 per cent) were found to be free from haemoglobinopathies and G6PD normal, the rest (25.5 per cent), either had haemoglobinopathies (7.5 per cent), G6PD deficiency (16 per cent) or a combination of G6PD deficiency with at least one abnormal Hb (2 per cent). The prevalence of total haemoglobinopathies in Oman was 9.5 per cent. The prevalence of sickle cell trait varied between regions, North Sharqiya had the highest prevalence of 10 per cent. Dakhiliya (9 per cent), followed by Muscat and South Batinah 8 and 7.9 per cent, respectively. The prevalence of sickle cell trait declined by a half in Musandam, South Sharqiya, Dhahira, and North Batinah (4.7, 3.9, 3.9, and 2.9 per cent respectively). Dhofar had the lowest prevalence of 0.2 per cent and no cases of sickle cell trait were found in the Al-Wousta region in the sample selected. The prevalence of beta-thalassaemia trait ranged from 3.9 to 0.2 per cent. Three regions had high rates: North Batinah (3.9 per cent), Muscat (2.8 per cent), and Dakhiliya (2 per cent). The other five regions in the Sultanate have lower rates: Dhahira (1.7 per cent), Musandam (1.6 per cent), South Batinah (1.5 per cent), South Sharqiya (1.2 per cent), and North Sharqiya (1.1 per cent). The prevalence of beta-thalassaemia trait in Dhofar was 0.2 per cent and no cases were detected in the Al-Wousta region. The prevalence of G6PD deficiency reached 29 per cent in Dakhiliya, 26 per cent in South Batinah, 21 per cent in Dhahira, 19 per cent in Muscat and 17 per cent in North Sharqiya and North Batinah. The prevalence declined to 10 per cent in Musandam, 9 per cent in South Sharqiya, Dhofar had the lowest prevalence of 2 per cent and no cases of G6PD deficiency were found in Al-Wousta. The male to female ratio was 2.5:1. In all regions of the Sultanate, prevalence of G6PD deficiency in males were more than twice those in females. From the above rates, it could be calculated that in the whole Sultanate 44,733 children under 5 years of age have G6PD deficiency, 14,306 have sickle cell trait, 474 have sickle cell disease, 5393 have beta-thalassaemia trait, and 175 have beta-thalassaemia major. The study showed that the mean Hb level of children under 5 years of age was 10.9 g/dl for both males and females; the mean Hb level for males was 10.89 g/dl and for females 10.99 g/dl, the difference between males and females was significant. The study revealed that half of the children under 5 years of age were anaemic. Mild anaemia was predominant (46 per cent), while moderate and severe anaemia were 4 and 0.2 per cent respectively. The status of anaemia among children improved with age; mild anaemia was prevalent in 65 per cent of children between ages 0 to < or = 1 years then decreased with age until it reached 30 per cent at 4-5 years of age. The survey produced the first normal haematological indices for children under 5 years of age to be used as a reference in the country. The blood picture of the normal subjects in the survey showed that the mean Hb value for males was 11.9 g/dl and for females 11.8 g/dl. The children had reduced values of MCH and MCV compared to normal international values, the reason for this could be alpha-thalassaemia or iron deficiency. The children maintained high values of HbF (more than 1.2 per cent) even after their first birthday. HbF reached its normal level at 5 years of age. Marriage of first cousins among the parents of the children studied under 5 years of age was 34 per cent. Total consanguinity rate including second cousin relationships and beyond was 58 per cent. We recommend that a national prevention programme for genetic blood disorders be formulated by the authorities. The programme could be included in the Ministry of Health 5-year health development programme for prevention of non-communicable diseases which already exists.

摘要

《遗传性血液疾病调查》是阿拉伯世界和中东地区首个基于社区的调查,旨在确定最常见遗传性血液疾病的患病率。该调查的目的是确定阿曼5岁以下儿童中报告的最常见遗传性血液疾病的患病率,以便为规划者和政策制定者提供适用于制定卫生政策、规划和评估的可靠信息。该调查由阿曼苏丹国卫生部设计、执行和资助。为了降低成本、节省精力和时间,该调查的数据收集与《海湾家庭健康调查》(GFHS)同时进行。阿曼苏丹国的GFHS是海湾合作委员会国家卫生部长理事会开展的一个研究项目。六个成员国参与了这个GFHS项目。总共采访了6103户家庭。在这些家庭中,6342名5岁以下儿童被其父母带到附近医院或卫生中心进行采血。样本中51%为男性,49%为女性。在接受调查的儿童中,17.9%在0至<1岁年龄组,20.3%在1至<2岁年龄组,21.1%在2至<3岁年龄组,20.5%在3至<4岁年龄组,20.2%在4至5岁年龄组。接受研究的儿童中,55%的母亲是文盲,9%能读写但未接受过小学教育,20%完成了小学教育,9%上过预科学校,5%上过中学,1%接受过中等教育,而0.6%完成了大学或高等教育。该调查结果显示,血红蛋白病在阿曼很普遍;镰状细胞特征的患病率为6%,β地中海贫血为2%。镰状细胞和纯合β地中海贫血的患病率分别为0.2%和0.07%。在本次调查中还检测到其他异常血红蛋白(Hb);HbD(0.6%)、HbE(0.3%)、HbC(0.02%)。镰状细胞与其他异常Hb的组合也以低患病率被检测到。葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症在阿曼患病率很高,男性为25%,女性为10%。在接受研究的儿童中,四分之三(74.5%)被发现没有血红蛋白病且G6PD正常,其余(25.5%)要么患有血红蛋白病(7.5%)、G6PD缺乏症(16%),要么是G6PD缺乏症与至少一种异常Hb的组合(2%)。阿曼血红蛋白病的总患病率为9.5%。镰状细胞特征的患病率在各地区有所不同,北沙尔基耶患病率最高,为10%。达希利亚(9%),其次是马斯喀特和南巴提奈,分别为8%和7.9%。马斯喀特、南沙尔基耶、宰海拉和北巴提奈的镰状细胞特征患病率下降了一半(分别为4.7%、3.9%、3.9%和2.9%)。佐法尔的患病率最低,为0.2%,在所选样本中,沃usta地区未发现镰状细胞特征病例。β地中海贫血特征的患病率在3.9%至0.2%之间。三个地区患病率较高:北巴提奈(3.9%)、马斯喀特(2.8%)和达希利亚(2%)。苏丹国的其他五个地区患病率较低:宰海拉(1.7%)、马斯喀特(1.6%)、南巴提奈(1.5%)、南沙尔基耶(1.2%)和北沙尔基耶(1.1%)。佐法尔的β地中海贫血特征患病率为0.2%,沃usta地区未检测到病例。G6PD缺乏症的患病率在达希利亚达到29%,在南巴提奈为26%,在宰海拉为21%,在马斯喀特为19%,在北沙尔基耶和北巴提奈为17%。在马斯喀特患病率降至10%,在南沙尔基耶为9%,佐法尔患病率最低,为2%,沃usta地区未发现G6PD缺乏症病例。男女比例为2.5:1。在苏丹国的所有地区,男性G6PD缺乏症的患病率是女性的两倍多。根据上述患病率,可以计算出在整个苏丹国,44733名5岁以下儿童患有G6PD缺乏症,14306名患有镰状细胞特征,474名患有镰状细胞病,5393名患有β地中海贫血特征,175名患有重型β地中海贫血。研究表明,5岁以下儿童的平均Hb水平,男性和女性均为10.9 g/dl;男性平均Hb水平为10.89 g/dl,女性为10.99 g/dl,男女之间差异显著。研究显示,5岁以下儿童中有一半贫血。轻度贫血占主导(46%),而中度和重度贫血分别为4%和0.2%。儿童贫血状况随年龄改善;0至<或=1岁儿童中,65%患有轻度贫血,随后随年龄下降,到4至5岁时降至30%。该调查得出了5岁以下儿童的首个正常血液学指标,可作为该国的参考。调查中正常受试者的血常规显示,男性平均Hb值为11.9 g/dl,女性为11.8 g/dl。与正常国际值相比,儿童的MCH和MCV值较低,原因可能是α地中海贫血或缺铁。儿童即使在满一岁后,HbF值仍保持较高水平(超过1.2%)。HbF在5岁时达到正常水平。接受研究的5岁以下儿童的父母中,近亲结婚率为34%。包括二级表亲及更远关系在内的总近亲结婚率为58%。我们建议当局制定一项遗传性血液疾病国家预防计划。该计划可纳入卫生部现有的预防非传染性疾病的5年卫生发展计划中。

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