The Effect of the Diet and Other Genetic Factors on a Unique β-Thalassemia Genotype IVS1.1 [G>A] / IVS2.1 [G>A] Discovered in Kirkuk City

  • Zehra Muhammed Kirdar Department of Biology, College of Science, Kirkuk University, Iraq
  • Ibrahim Aljebory Collage of education / Al- Hawija, Kirkuk University, Iraq

Abstract

Background: Thalassemias are inherited hemoglobin disorders characterized by reduced or absent globin chain synthesis, resulting in a variety of clinical phenotypes ranging from severe chronic anemia requiring lifelong transfusion and iron chelating therapy to asymptomatic individuals.

Methods: The study was done on a family consisting of four individuals, a minor father and a minor mother (carriers), major two daughters. During sampling, one of the girls has facial deformities and a typical thalassemic face with changes on the skull (younger daughter B). The older daughter(A) has no facial deformities and has a normal skull like a healthy non-thalassemic individual.

The study aimed to detect if the two daughters have the same mutations and the reason for the differences in facial bone deformities between them.

The results were obtained by reverse hybridization using B- globin strip assay MED and pedigree analysis of the family.

Results: The two thalassemia major daughters have a unique genotype never seen before in another study IVS1.1 [G>A]/ IVS2.1 [G>A]. Each mutation inherited from the minor mother IVS2.1 [G>A] and minor father IVS1.1[G>A]. The combination of the two mutations is seen first in this family never seen before in another study. This new combination in the two intervening sequences 1,2 on the B-globin gene sequence causes a complete absence of a beta chain. That means the two daughters are thalassemia major [B0/B0].

Conclusion: The genotype IVS1.1[G>A]/IVS2.1[G>A] (B0/B0) is unique and first seen in Kirkuk city. The phenotypes between the two daughters were affected by the diet and the mutation in the MCIR gene.

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Pathogenesis of β-thalassemia major and its consequences (Nayak and Raj, 2017)
Published
2022-12-31
How to Cite
Kirdar, Z. M., & Aljebory, I. (2022). The Effect of the Diet and Other Genetic Factors on a Unique β-Thalassemia Genotype IVS1.1 [G>A] / IVS2.1 [G>A] Discovered in Kirkuk City. Revista Electronica De Veterinaria, 23(4), 92 - 104. Retrieved from https://veterinaria.org/index.php/REDVET/article/view/284