Effect of deletions in the α-globin gene on the phenotype severity of β-thalassemia. (4th March 2022)

• Record Type: Journal Article
• Authors: Saha, Dipankar; Chowdhury, Prosanto Kr.; Panja, Amrita; Pal, Debashis; Nayek, Kaustav; Chakraborty, Gispati; Sharma, Prashant; Das, Reena; Basu, Surupa; Chatterjee, Raghunath; Basu, Anupam
• Is Part Of: Hemoglobin. Volume 46:Number 2(2022)
• Page Start: 118
• Page End: 123
• Publication Date: 2022-03-04
• Subjects: α-Globin gene deletion -- β-thalassemia (β-thal) -- β0/β+ genotype -- clinical severity -- hemoglobinopathy; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2022.2088381
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: Thalassemia is the most common inherited hemoglobinopathy worldwide. Variation of clinical symptoms in this hemoglobinopathy entails differences in disease-onset and transfusion requirements. The aim of this study was to investigate the role of α-globin gene deletions in modulating the clinical heterogeneity of β-thalassemia (β-thal) syndromes. A total number 270 β-thal subjects were enrolled. Hematological parameters were recorded. β-Globin mutations were determined by amplified refractory mutation system-polymerase chain reaction (ARMS-PCR), gap-PCR and Sanger sequencing. α-Globin gene deletions were determined by multiplex PCR. Out of 270 β-thal subjects, 19 carried β + /β +, 74 had β 0 /β 0 and 177 had the β 0 /β + genotype. When we determined the severity of the different β-thal subjects in coinherited with the α gene deletion, it was revealed that, 84.2% β + /β + subjects carried a non severe phenotype and did not have an α gene deletion. Of the β 0 /β 0 individuals, 95.9% presented a severe phenotype, irrespective of α-globin gene deletions. In cases with the β 0 /β + genotype, 19.2% subjects also carried a deletion on the α gene. Of these, 61.8% presented a non severe phenotype and 38.2% were severely affected. Only in the β 0 /β + category did α gene deletions make a significant contribution ( p < 0.001) toward alleviation of clinical severity. Therefore, it can be stated that α-globin gene deletions play a role in ameliorating the phenotype in patients with a β + /β 0 genotype.