Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia.

ABSTRACT:

Background

The frequency of the beta-thalassemia (β-thalassemia) gene in Indonesia ranges from 3 to 10%. However, in the East Java province, there is still limited information on the prevalence of β-thalassemia mutations in clinically diagnosed beta-thalassemia patients of East Java. Therefore, this study aimed to characterize β-thalassemia mutations in selected patients in the East Java province of Indonesia.

Methods

This is an analytical observational study. Diagnosis of β-thalassemia was based on clinical presentation, complete blood count (CBC), and hemoglobin (Hb) electrophoresis. Blood specimens taken from each patient in three ethylenediaminetetraacetic acid (EDTA) tubes were analyzed for CBC and Hb electrophoresis and processed for DNA extraction and subsequent polym

SUBMITTER: Hernaningsih Y 

PROVIDER: S-EPMC9335155 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature