Mutational analysis of Some Thalassemia associated HBAand HBG Mutations in Southern Punjab Thalassemia Patients | [Abstract Book on Global Science Technology and Management Conference • 2023]

Author(s):

1. Sidra Naz: Department of Biochemistry, IBBB, The Islamia University of Bahawalpur, Bahawalpur, Pakistan

2. Iqra Abdullah: Department of Biochemistry, IBBB, The Islamia University of Bahawalpur, Bahawalpur, Pakistan

3. Samina Ejaz: Department of Biochemistry, IBBB, The Islamia University of Bahawalpur, Bahawalpur, Pakistan

Abstract:

Thalassemia is a genetic blood disorder in which either insufficient or dysfunctional hemoglobin is produced. Hemoglobin is a globular protein molecule with four subunits attached to the same heme atom. The HBA, HBA2, and amount of HBF are the three kinds of hemoglobin found in human red blood cells. Beta and alpha thalassemia are the most prevalent diseases, while gamma and delta thalassemia are less frequent. Alpha globin genes (HBA1 and HBA2) are the protein coding genes present on short arm of chromosome 16 at position 13.3. These genes are also known as HBH; ECYT7; HBA-T2. Gamma globin genes (HBG1 and HBG2) are also the protein coding genes which are present on short arm of chromosome 11 at position 15.4. The main purpose of study was to analyze and document mutations in HBA and HBG gene in southern Punjab thalassemia patients. For mutational analysis of HBA and HBG gene blood samples of thalassemia patients were collected from thalassemia unit of Bhawal Victoria hospital of Bahawalpur. Collected blood samples were subjected to organic DNA extraction method for genomic DNA extraction. For visualization of extracted DNA 1% agarose gel electrophoresis was performed. DNA amplification was done using HBA and HBG gene specific primers and confirmation of PCR amplification was done by resolving PCR products on 2% agarose gel electrophoresis. Amplified HBA and HBG gene products were sent to Macrogen Korea for DNA sequencing and confirmation of HBA and HBG gene mutations. Sequencing results helped to identify HBA and HBG mutations prevalent in southern Punjab thalassemia patients.

Page(s): 104-104

DOI: DOI not available

Published: Journal: Abstract Book on Global Science Technology and Management Conference, Volume: 0, Issue: 0, Year: 2023

Keywords:

Thalassemia , Mutational Profiling , Biomarker , HBG , HBA gene

References:

References are not available for this document.

Citations

Citations are not available for this document.

Citations

Downloads

Views