Co-inheritance of HbD Iran/Beta Thalassemia IVS1–5 (G > C) Trait in a Punjabi Lady with Diabetes (original) (raw)
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Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-β-thalassemia
Indian journal of clinical biochemistry : IJCB, 2010
Hemoglobin Q- India (alpha) 64 Asp → His is an alpha chain variant which is generally found in heterozygous state and presents normal hematological blood picture. Here we report a rare case of HbQ-India with a thalassemic phenotype that has been analyzed using a combination of mass spectrometry, gene sequencing and PCR analysis. This combined analyses revealed the HbQ variant to be associated with a beta chain mutation, IVS 1-1 [G>T]. Though HbQ has earlier been reported with thalassemic trait using different techniques, this is the first report of a compound α and β chain Hb heterozygous mutant involving HbQ and IVS1-1 being validated using Mass Spectrometry and Reverse dot blot hybridization.
Mutational Studies of Gene HBB in β-Thalassemia Patients from Balochistan, Pakistan
Current Trends in OMICS, 2021
Thalassemia is a hereditary blood disorder. It occurs due to two mutations in the HBB gene located on chromosome 11. This gene has 1606 base pairs and contains three exons. Moreover, HBB gene codes for β globin protein have been identified to posses 868 mutations, which comprise point mutation, insertion, deletion, and gene arrangement. In β thalassemia major, both alleles are mutated and no β chain is synthesized. In this study, three human families with thalassemia were selectedfrom different areas of Balochistan. For DNA extraction and estimation, 5 ml blood samples were extracted intravenously from the affected individuals, their normal siblings, and parents in 15ml falcon tubes containing 200μl EDTA. Primer sequences were designed on primer 3 for the mutational analysis of the HBB gene. Since the gene has a total of three exons and two introns, three primers, namely HBBX1, HBBX2 and HBBX3, were designed. These primers were used to amplify the HBB gene responsible for β thalasse...
Interaction of Thalassemia and Hb Variants in Southeast Asia: Genotype-Phenotype Relationship
IntechOpen eBooks, 2023
Thalassemia and hemoglobinopathies are characterized by globin gene mutations affecting the production of quantitative and structural defects of the globin chain. α-Thalassemia, β-thalassemia, hemoglobin E (Hb E), and hemoglobin Constant Spring (Hb CS) are very common in Southeast Asian countries. Complex interactions of thalassemia and Hb variants are also common and affect the thalassemia diagnosis with several techniques including Hb typing and DNA analysis. A family study (family pedigree) is required in the proband with a complex interaction of several globin gene defects with rare types. Homozygous β-thalassemia, Hb E/β-thalassemia, and Hb Bart's hydrops fetalis are severe thalassemia and these diseases have been concerned and included in the prevention and control program in several countries. Understanding the genotype-phenotype could help with the proper laboratory tests, genetic counseling, and effective treatment for the patients.
Pakistan Journal of Medical and Health Sciences, 2021
Background: Hemoglobin D Iran is frequently misdiagnosed as Hb E or Hb D Punjab if only one method of screening is used. The objective of our study was to highlight the importance of using two different screening techniques in diagnosis of a hemoglobin variant, Hb D Iran in our case. Hematological parameters of heterozygous Hb D Iran and compound heterozygous β/Hb D Iran were also compared. Methods: A descriptive study was carried out on results of 52,379 subjects which were part of thalassemia extended family cascade screening from 36 districts of Punjab from October 2019-March 2021. Cases of Hb D Punjab and Hb E were run on both CE-HPLC (cation exchange-high performance liquid chromatography) and CZE (capillary zone electrophoresis). Resulting Hb D Iran cases were confirmed by ARMS-PCR (Amplification refractory mutation system-polymerase chain reaction). Results: Forty cases of Hb D Iran were detected out of 160 initially suspected Hb D Punjab cases and 126 Hb E cases. Diagnosis w...
International Journal of Population Studies
Thalassemia is a dreadful heritable hemolytic disease, characterized by a genetic mutation in the hemoglobin subunit beta (HBB) gene. Mutation in HBB gene completely halts the production of the beta-globin protein, which leads to the defective production of functional hemoglobin. The prevalence of this disease is reported only in some specific geographical regions of India. Hence, the aim of this study was to screen the population of Garhwal for beta-thalassemia (β-thalassemia) and thus find out the prevalence in the inhabitants through molecular characterization. For this study, 4,081 individuals were considered, out of which only the ones with elevated HbA2 levels (64) were subjected to molecular characterization. Mutational studies were carried out for the five most common mutations prevalent in the Indian subcontinent, that is, IVS 1-5 G-C, IVS 1-1 G-T, Codon 41/42 (-TCTT), Codon 8/9, and 619 bp deletion. The present study reports a frequency of 0.5% for β-thalassemia mutations ...
Saudi Medical Journal
Beta-thalassemia is a genetic disorder that is caused by variations in the beta-hemoglobin (HBB) gene. Saudi Arabia is among the countries most affected by betathalassemia, and this is particularly problematic in the Eastern regions. This review article is an attempt to compile all the reported mutations to facilitate further national-level studies to prepare a Saudi repository of HBB gene variations. In Saudi Arabians, IVSI-5 (G>C) and Cd 39 (C>T) are the most prevalent HBB gene variations out of 42 variations. The coinheritance of HBB gene variations with ATRX, HBA1, HBA2, HBA12, AHSP, and KLF1 gene variations were observed to be common in the Saudi population. National surveys on the molecular Review Articles nature of hemoglobinopathies should be set up through collaborations between research centers from various regions to create a well-documented molecular data bank. This data bank can be used to develop a premarital screening program and lead to the best treatment and prevention strategies for betathalassemia.
Compound Heterozygous Hemoglobin D-Punjab/Hemoglobin D-Iran: A Novel Hemoglobinopathy
Indian Journal of Hematology and Blood Transfusion, 2014
Cation exchange high performance liquid chromatography (CE-HPLC) is an excellent tool for the diagnosis of various hemoglobin (Hb) disorders. HbD-Punjab is an uncommon structural Hb variant seen in North-India. Rarely, a compound heterozygous state for HbD-Punjab with high HbA2 has been described. We describe an index case whose CE-HPLC showed a compound heterozygous state for Hb-Punjab/HbD-Iran which was confirmed by family study, acid and alkaline electrophoresis and beta gene sequencing. This case highlights the role of alkaline and acid electrophoresis to resolve common peaks that elute with HbA2 on CE-HPLC. To the best of our knowledge, this compound heterozygous state of HbD-Punjab with HbD-Iran has not been reported earlier.
1989
We have studied the spectrurn of mutations producting 8-thalassaemia intermedia in South China. The methods of mutation detection include oligonucleotide analysis, polymerase chain reaction amplification of the 8globin gene and direct genomic sequencing. The mutations have been identified in 22 P-globin genes from the patients in 11 unrelated families. Seven different mutations have been identified and the A to G substitution in the 'IATA box of the 8-globin gene accounts for 42% of these mutant P-globin genes. Most patients have a 8' thalassaemia and one copy of the TATA box mutation. In two patients with p" thalassaemia intermedia the mild phenotype may be explained in one by the presence of the-+-+ + 5' 8-globin gene cluster haplotype which contains the Xmn I site-158 nt to the Gyglobin gene or in the other by the number of a-globin genes present. 8-thalassaemia is a disorder of b-globin gene expression characterized by hypochromic. haemolytic anaemia. It is inherited as an autosomal recessive disorder and had attracted a great deal of research interest since it is the model prototype for the study of the molecular basis of reduced or absent gene expression (Bunn &Forget, 1986: Weatherall & Clegg, 1981). The disease has a high frequency in the Mediterranean basin, Africa, India, South China and South East Asia. To date, 48 different mutations in the P-globin gene on human chromosome 11p have been characterized in different ethnic groups (Antonarakis et d. 1985: Kazazian, 1988). The clinical severity of P-thalassaemia varies in different individuals and depends on (i) the nature of the mutations in the 8-globin gene (Antonarakis et al. 1984, 1985). (ii) the coinheritance of a-thalassaemia (Wainscoat et al. 1983). (iii) the co-inheritance of gene(s) for hereditary persistence of fetal haemoglobin (Capellini tit al. 1981). (iv) the co-inheritance of a P-globin cluster haplotype-associated determinant that increases HbF levels under conditions of erythropoietic stress (Thein et al. 1987: Gilnian & Huisman. 1985). and (v) other as yet unknown factors. 8-thalassaemia intermedia encompasses a wide range of conditions with a mild form of 8-thalassaemia in which the patients do not require frequent transfusions and their haemoglobin level