Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia

复合杂合度 遗传学 微细胞增多 等位基因 生物 地中海贫血 桑格测序 β地中海贫血 基因型 表型 人口 杂合子丢失 非翻译区 分子生物学 基因 医学 内科学 DNA测序 贫血 缺铁 核糖核酸 环境卫生
作者
Coralea Stephanou,Miranda Petrou,Petros Kountouris,Christiana Makariou,Soteroula Christou,Michael Hadjigavriel,Marina Kleanthous,Thessalia Papasavva
出处
期刊:Biomedicines [Multidisciplinary Digital Publishing Institute]
卷期号:12 (2): 296-296 被引量:2
标识
DOI:10.3390/biomedicines12020296
摘要

The +33 C>G variant [NM_000518.5(HBB):c.-18C>G] in the 5′ untranslated region (UTR) of the β-globin gene is described in the literature as both mild and silent, while it causes a phenotype of thalassemia intermedia in the presence of a severe β-thalassemia allele. Despite its potential clinical significance, the determination of its pathogenicity according to established standards requires a greater number of published cases and co-segregation evidence than what is currently available. The present study provides an extensive phenotypic characterization of +33 C>G using 26 heterozygous and 11 compound heterozygous novel cases detected in Cyprus and employs computational predictors (CADD, RegulomeDB) to better understand its impact on clinical severity. Genotype identification of globin gene variants, including α- and δ-thalassemia determinants, and rs7482144 (XmnI) was carried out using Sanger sequencing, gap-PCR, and restriction enzyme digestion methods. The heterozygous state of +33 C>G had a silent phenotype without apparent microcytosis or hypochromia, while compound heterozygosity with a β+ or β0 allele had a spectrum of clinical phenotypes. Awareness of the +33 C>G is required across Mediterranean populations where β-thalassemia is frequent, particularly in Cyprus, with significant relevance in population screening and fetal diagnostic applications.

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