Spectrum of HBB gene variants and major endocrine complications in thalassemia patients of Pakistan

Objectives: To determine the molecular characterisation of beta-thalassemia major patients, pattern endocrine complications and its association with haemoglobin subunit beta gene variants. Method: The cross-sectional study was conducted from November 2021 to 2022 after approval ethics review committee Liaquat University Medical Health Sciences, Jamshoro, Pakistan, comprised 88 patients thalassemia aged >8 years having serum ferritin level >1000µg/L. subjects were analysed for variants complications, like growth retardation, hypogonadism, hypothyroidism, hypoparathyroidism diabetic abnormalities using an automatic chemistry analyser, fully chemiluminescence immunoassay enzyme-linked immunosorbent assay real-time polymerase chain reaction. Data SPSS 25. Results: Of subjects, 40(45.4%) girls 48(54.5%) boys. overall mean age 12±2.81 years. total, 55(62.5%) had 41(46.6%) cases 16(18.1%) 5(5.7%) hypoparathyroidism, 3(3.4%) diabetes mellitus 8 (9.1%) impaired glucose tolerance. Also, 65(73.9%) confronted at least one complication. Endocrine strongly associated levels (p=0.000). most common variant identified IVSI-5 (G>C) in 36(40.9%), cluster differenctiation-26 (G>A) 1(1.1%). between statistically non-significant (p>0.05). Conclusion: found be frequent among patients. Key Words: Beta-thalassemia major, Growth Hypothyroidism, Parathyroidism, Diabetes mellitus.