A rare and novel mutation in a beta-globin gene of thalassemia patient of Pakistan: A case report.

ABSTRACT:

Introduction

Thalassemia is a genetically complex disorder that evolves from a mutation in the beta chain of hemoglobin. Much work has been done on the common mutations, but some rare mutations have been found that impact and diversify the disease spectrum.

Case presentation

Our case report is on a young adult who presented with anemia, gall stones, and off-and-on transfusion dependency. A detailed workup revealed that the patient was suffering from thalassemia intermedia. The interesting finding was that the patient, product of non-consanguineous marriage was homozygous for beta thalassemia mutation on genetic analysis. A detailed genetic analysis of the parents revealed them as carriers for the same mutation. It was found that patient was homozygous for a rare and novel mu

SUBMITTER: Rashid A 

PROVIDER: S-EPMC9793159 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature