Impact of genotype on endocrinal complications in β‑thalassemia patients

In β-thalassemia, certain mutations cause a complete absence of β-globin chain synthesis, termed β 0 -thalassemia, while others may allow certain β-globin production and are termed β + - or β ++ -thalassemia. The homozygous state results in severe anemia, which requires regular blood transfusion. By contrast, frequent blood transfusion can in turn lead to iron overload, which may result in several endocrinal complica- tions. The present study aimed to investigate the impact of genotype on the development of endocrine complications in β-thalassemia patients. A cross-sectional study was conducted on 100 thalassemia patients >10 years. A data abstraction form was designed to capture the appropriate information from the individual medical records, including full clinical, laboratory, transfusion and chelation data. The genotype of the patients was identified by the DNA sequencing technique. Growth retardation and hypogonadism were the most promi- nent endocrinal complications (70 and 67%, respectively) followed by hypothyroidism, diabetes mellitus and hypo- parathyrodism (8, 8 and 7%, respectively). The most common mutations identified were IVS‑1‑110, IVS‑1‑1 and IVS‑1‑6 (63, 47 and 41%, respectively). Patients with the β 0 β 0 genotype had a significantly higher prevalence of growth retardation, hypogonadism, hypothyroidism and hypoparathyrodism compared to those with the β 0 β + and β + β + genotypes (P<0.001, P<0.001, P<0.001 and P=0.037, respectively). Patients with the homozygous IVS‑11‑745 mutation had a significantly higher prevalence of diabetes (P=0.001). The underlying genetic defect in thalassemia patients is a contributing factor for the development of endocrinal complications, as patients with the more severe defects have a greater rate of iron loading through higher red cell consumption.