Abstract
Beta-thalassemia is described as a group of hereditary blood disorders characterized by abnormalities in the synthesis of beta chains of hemoglobin. These anomalies result in different phenotypes ranging from moderate to severe clinical symptoms to no symptoms at all. Most of the defects in hemoglobin arise directly from the mutations in the structural β-globin gene (HBB). Recent advances in computational tools have allowed the study of the relationship between the genotype and phenotype in many diseases including β-thalassemia. Due to high prevalence of β-thalassemia, these analyses have helped to understand the molecular basis of the disease in a better way. In this direction, a relational database, named HbVar, was developed in 2001 by a collective academic effort to provide quality and up-to-date information on the genomic variations leading to hemoglobinopathies and thalassemia. The database recorded details about each variant including the altered sequence, hematological defects, its pathology, and its occurrence along with references. In the present study, an attempt was made to investigate nondeletion mutations in the HBB picked up from HbVar and their effects using the in silico approach. Our study investigated 12 nucleotides insertion mutations in six different altered sequences. These 12 extra nucleotides led to the formation of a loop in the protein structure and did not alter its function. It appears that these mutations act as ‘silent' mutations. However, further in vitro studies are required to reach definitive conclusions.
Highlights
Hemoglobinopathies are genetic disorders caused by singlegene variations in the α-like and β-like human globin gene clusters
Mutations in the HBB may involve substitution, deletion, or insertion of one or multiple nucleotides within the gene or its flanking regions resulting in anemia and low RBC production [3]. β- Thalassemia is inherited as an autosomal recessive trait and its clinical manifestation can be divided as thalassemia major, intermedia, and thalassemia minor [4]
Other mutations allow production of β-globin chains in varying proportions leading to β+ thalassemia. This case is most commonly found in the Middle East, Central Asia, Mediterranean countries, India, and southern China and in some parts of Africa and South America [5]. It is one of the BioMed Research International most common genetic disorders caused by point mutations in Saudi Arabia causing variable phenotypic effects
Summary
Hemoglobinopathies are genetic disorders caused by singlegene variations in the α-like and β-like human globin gene clusters These are the most common inherited disorders in humans with nearly 7% of the human population acting as carriers of the mutations in globin genes. Other mutations allow production of β-globin chains in varying proportions leading to β+ thalassemia This case is most commonly found in the Middle East, Central Asia, Mediterranean countries, India, and southern China and in some parts of Africa and South America [5]. It is one of the BioMed Research International most common genetic disorders caused by point mutations in Saudi Arabia causing variable phenotypic effects. The most common mutations in most Arab-populated countries include IVSI-110(G>A), IVSI-1(G>A), IVSI-6(T>C), IVSII1(G>A), IVSI-5(G>C), codon 5(-CT), and codon 39 (C>T) [7]
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