牙买加的地中海贫血特征。

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2023-08-01 DOI:10.1007/s12687-023-00657-9
G R Serjeant, B E Serjeant, K P Mason, F Gibson, R-A Gardner, L Warren, M Reid, M Happich, A E Kulozik
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引用次数: 0

摘要

本研究的目的是回顾牙买加人群中β地中海贫血的患病率和特征。在过去46年中对221,306名新生儿进行的筛查显示了地中海贫血基因的分布和流行情况,对牙买加中部曼彻斯特教区的16,612名高中生进行的筛查提供了他们的血液学特征。通过双杂合子预测的-地中海贫血特征的患病率为金斯顿10万名婴儿中的0.8%,牙买加西南部121,306名新生儿中的0.9%,曼彻斯特小学生中的0.9%。轻度β +地中海贫血变体(-88 C>T, -29 A>G, -90 C>T, polyA T>C)占Kingston新生儿的75%,牙买加西南部新生儿的76%,曼彻斯特学生的89%。严重的β +地中海贫血变体并不常见。43例患者发生了Betao地中海贫血变异,由11种不同的变异引起,其中IVSII-849 A>G占25例(58%)。IVSII-781 C>G的红细胞指数与HbAA没有显著差异,这可能是一种无害的多态性,而不是β +地中海贫血的一种形式;在学校筛查中剔除6例对地中海贫血特征的频率影响很小。β +型和β -型地中海贫血特征中的红细胞指数遵循既定模式,尽管两者都与HbF水平升高有关。牙买加β +地中海贫血基因的良性性质意味着镰状细胞- β +地中海贫血病例很可能被忽视,肺炎球菌预防的作用等重要临床问题仍有待解答。
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The beta thalassaemia trait in Jamaica.

The objective of this study was to review the prevalence and features of the beta thalassaemia trait in Jamaican populations. Screening of 221,306 newborns over the last 46 years has given an indication of the distribution and prevalence of beta thalassaemia genes, and screening of 16,612 senior school students in Manchester parish, central Jamaica, has provided their haematological features. The prevalence of the beta thalassaemia trait predicted from double heterozygotes was 0.8% of 100,000 babies in Kingston, 0.9% of 121,306 newborns in southwest Jamaica, and 0.9% of school students in Manchester. Mild beta+ thalassaemia variants (-88 C>T, -29 A>G, -90 C>T, polyA T>C) accounted for 75% of Kingston newborns, 76% of newborns in southwest Jamaica, and 89% of Manchester students. Severe beta+ thalassaemia variants were uncommon. Betao thalassaemia variants occurred in 43 patients and resulted from 11 different variants of which the IVSII-849 A>G accounted for 25 (58%) subjects. Red cell indices in IVSII-781 C>G did not differ significantly from HbAA, and this is probably a harmless polymorphism rather than a form of beta+ thalassaemia; the removal of 6 cases in school screening had a minimal effect on the frequency of the beta thalassaemia trait. Red cell indices in the beta+ and betao thalassaemia traits followed established patterns, although both were associated with increased HbF levels. The benign nature of beta+ thalassaemia genes in Jamaica means that cases of sickle cell-beta+ thalassaemia are likely to be overlooked, and important clinical questions such as the role of pneumococcal prophylaxis remain to be answered.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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