β-地中海贫血的埃及儿童BCL11A多态性:与表型异质性的关系

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2023-03-01 DOI:10.1055/s-0041-1728744
Nouran Y Salah, Heba G A Ali, Noha Bassiouny, Lamya Salem, Sara I Taha, Mariam K Youssef, Layla Annaka, Noha M Barakat
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引用次数: 2

摘要

胎儿血红蛋白(HbF)是β-地中海贫血表型的有效基因修饰因子。b细胞淋巴瘤11A (BCL11A)基因导致HbF的显著沉默。本研究的目的是评估不同BCL11A基因型在埃及β-地中海贫血儿童队列中的患病率,并将其与HbF和临床严重程度评分相关联。从艾因沙姆斯大学儿童血液学诊所招募82名β-地中海贫血患儿(年龄12.95±3.63岁)。根据β-地中海贫血的临床严重程度分为3个亚组:轻度20例(24.4%),中度24例(29.3%),重度38例(46.3%)。评估年龄、性别、诊断年龄、初始乙肝病毒水平、输血史和脾切除术史。测定人体测量、贫血和含铁血黄素症的体征以及严重程度评分。对rs11886868进行全血图谱、铁蛋白和单基因多态性基因分型等实验室调查。结果显示,CC基因型16例(19.5%),TC基因型38例(46.3%),TT基因型28例(34.1%)。TT基因型β-地中海贫血患儿的严重程度评分明显高于其他两组(p p BCL11A基因多态性与β-地中海贫血临床严重程度较好相关)。
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BCL11A Polymorphism in Egyptian Children with β-Thalassemia: Relation to Phenotypic Heterogeneity.

Fetal hemoglobin (HbF) is a potent genetic modifier of β-thalassemia phenotype. B-cell lymphoma 11A ( BCL11A ) gene results in significant silencing of HbF. The aim of this study was to assess the prevalence of different BCL11A genotypes among a cohort of Egyptian children with β-thalassemia and to correlate them to HbF and clinical severity score. Eighty-two children with β-thalassemia (aged 12.95 ± 3.63 years) were recruited from the Pediatric Hematology Clinic, Ain Shams University. They were divided based on the clinical severity of β-thalassemia into three subgroups: 20 mild (24.4%), 24 moderate (29.3%), and 38 severe (46.3%). Age, gender, age of diagnosis, initial HbF level, transfusion history, and history of splenectomy were assessed. Anthropometric measures, signs of anemia and hemosiderosis, and the severity score were determined. Laboratory investigations such as complete blood picture, ferritin, and single gene polymorphism genotyping of the rs11886868 were also performed. Our findings showed that 16 children had CC genotype (19.5%), 38 had TC genotype (46.3%), and 28 had TT genotype (34.1%) of the rs#. β-thalassemia children with TT genotype had significantly higher severity scoring than the other two groups ( p  < 0.001). Moreover, mean initial HbF was found to be lower in children with TT genotype followed by TC and CC genotypes ( p  < 0.001). Increased γ-globin expression associated with BCL11A gene polymorphism is associated with better clinical severity of β-thalassemia.

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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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