Correlation of Cytogenetic, Molecular and Clinical Findings in Thalassemia Patients at a Tertiary Care Hospital

Abstract

BACKGROUND Thalassemia syndromes are most common monogenic disorders which can be inherited by children from their parents. This study aimed to evaluate the correlation of cytogenetic (1p36 deletion), molecular (common mutations) and clinical findings such as haematologic parameters, age at presentation, nutritional status and transfusion requirements with β-thalassemia patients. METHODS In total, 140 β-thalassemia patients were clinically classified into β-thalassemia major (TM) or intermedia (TI). The cytogenetic analysis for 1p36 deletion was carried out in suspected patients with phenotypic dysmorphic, developmental delay and mental retardation by karyotyping. ARMS-PCR was performed to identify the common mutations in β-thalassemia patients. All data were analyzed by SPSS software. RESULTS Karyotyping was performed in 10 β-Thalassemia patients for 1p36 del. based on their physical appearance and intelligence; but, none of them were found to be positive for 1p36 del. Total 101 (72.14%) patients were of thalassemia major and 39 (27.86%) were of thalassemia intermedia. Among the thalassemia major patients, 71 (70.30%) have common mutation. In our study the IVS I-5 G→C mutation was most common 62 (87.32%) in thalassemia major patients. The clinical parameters such as Hb (gm/dl), HbA2 (%), HbF (%), MCV (fL), MCH (pg) and MCHC (gm/dl) were significantly associated with β-Thalassemia major. CONCLUSIONS In β-Thalassemia patients, 1p36 deletion was not observed. In our study, the IVS I-5 G→C mutation was the most common [62(87.32%)]. There were significant differences on the age of first transfusion, Hb (gm/dl), HbA2 (%), HbF (%), MCV (fL), MCH (pg) and MCHC (gm/dl) in between β-Thalassemia major and intermedia.