Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia.

ABSTRACT:

Background and purpose

Thalassemia is a genetic disorder with a fairly high prevalence worldwide. Three to 10% of Indonesian people are estimated to be carriers for thalassemia. This study was intended to figure out the spectrum of genetic mutations of patients with thalassemia in Samarinda City, East Kalimantan.

Methods

The research subjects consisted of 31 β-thalassemia patients registered with the Association of Thalassemia Patients' Parents (POPTI) of Samarinda. DNAs were extracted from the patients' blood samples then amplified by the direct sequencing technique with polymerase chain reaction to analyze β-globin gene mutations.

Result

The study results show that the male/female ratio was 51.6%:48.4%, the patients' ages ranged from 4 years to 56 years with an aver

SUBMITTER: Susanto Z 

PROVIDER: S-EPMC6933185 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature