Unveiling the molecular and comorbidity profile among transfusion-dependent and nontransfusion-dependent beta-thalassemic patients in Baghdad city

Abstract

Abstract: BACKGROUND: Beta-thalassemia (BT) is the most common hereditary hemolytic disease in Iraq. The high prevalence rate of this disorder, coupled with, frequently encountered severe clinical course, as well as the life-long burden of comorbidities and complications, have all contributed to its status as one of the most clinically and epidemiologically significant global health issues. This has prompted our efforts to study the molecular map of BT in Baghdad city. OBJECTIVES: The aims of this study as to identify the molecular map of BT in patients from Baghdad city with investigating the data from several clinical and disease-associated morbidity parameters to establish potential correlation points. PATIENTS, MATERIALS AND METHODS: The molecular profile of HBB gene of 80 transfusion-dependent (TD) and non-TD BT patients from Baghdad thalassemia centers was examined using multiplex polymerase chain reaction and reverse hybridization technique and direct gene sequencing. RESULTS: In the current study, 27 different genotypes were characterized. The most predominant displayed genotypes were IVS 1.110 (G>A)/IVS 1.110 (G>A), and IVS 2.1 (G>A)/IVS 2.1 (G>A). Our data also revealed that 70% of the exhibited genotypes were homozygous, and most of those (78.6%) were TD. As for disease comorbidities, cholelithiasis (53.8%), osteoporosis (51.3%), and facial bone deformity (45%) were among the most frequently encountered in our study. CONCLUSIONS: The compiling clinical and molecular data revealed in the current study, has indicated an aggregation of certain homozygous BT genotypes in Baghdad city that possibly influenced the comorbidity profiles of our patients.