Project Description

Author: Mahzabin et al.


The phenotypically diverse presentation of Hemoglobin E/β-thalassemia is often attributed to coinheritance of β-globin (HBB) gene mutations. This study described the phenotype and genetic basis of Hb E/β-thalassemia patients and its relation with clinical severity.

A total of 32 Hb E/β-thalssemia patients were included in this cross-sectional study. Cases were confirmed by capillary hemoglobin electrophoresis or high-performance liquid chromatography and further analyzed with clinical information and ancestral data. Data collection period was May 2019 to July 2020. Gene sequencing was performed using Sanger’s sequencing method for mutational analysis, and Mahidol scoring was used to grade clinical severity.

Result: Of all, 13 heterozygous mutations were identified in the HBB gene. Of all, IVS-1-5 (G>C) (53.1%) was the most common, and codon 30 (G>C) (12.5%) was the second most common mutations. According to the Mahidol scoring system, 37.5% were classified as phenotypically mild, 43.8% as moderate and 18.8% as severe. The IVS-1-5(G>C) mutation was found to be significantly associated with severe disease and showed no mild form.

Conclusion: This study described the clinical severity along with mutation frequencies in hemoglobin E/β-thalassemia patients. The findings asks for further exploration of the association between phenotypic severity and genetic mutations through larger studies.

Keywords: Hb E/Beta thalassemia; Genetic mutation; Phenotype; Gene sequencing

Status: Ongoing

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