Association of Serum Ferritin With Growth and Endocrine Function in Thalassemia Major Children in North India: An Observational Study.

Background Thalassemia is the most common form of hereditary anemia caused by the impaired synthesis of one of the two globin chains in hemoglobin. A decrease in beta-globin chains occurs in beta-thalassemia, resulting in a relative excess of alpha-globin chains. Thalassemia major is the severe form of thalassemia, which requires frequent blood transfusions for survival. Consequently, the natural course of the disease is affected by blood transfusion-related side effects. Repeated blood transfusions lead to the accumulation of iron in tissues such as the liver, heart, and endocrine glands. Serum ferritin is a biomarker of iron overload. Endocrinopathies are among the most frequently observed complications in thalassemia. Early recognition and treatment are important in order to prevent late irreversible sequelae and improve the quality of life of these patients. This study was conducted to evaluate growth parameters and endocrine function in children with thalassemia major and their relation with serum ferritin. Methods This prospective observational study included all patients between the age groups six months and 14 years with transfusion-dependent thalassemia. We included 62 children admitted during the study period fulfilling eligibility criteria. The data was analyzed using descriptive statistics and making comparisons among various groups. Spearman correlation analysis was done to assess the correlation between serum ferritin and thyroid hormone. The difference of means across the groups was tested with the Mann-Whitney U test for two groups and the Kruskal-Wallis test for more than two groups. Results The mean age of the study participants was 5.66 ± 3.77 years, with the largest group consisting of children aged one to three years, comprising 40.3% of the participants. The majority of participants were boys. This study showed a high prevalence of endocrinopathies in transfusion-dependent thalassemic patients. The most common endocrinopathy was short stature (37.1%), followed by impaired glucose tolerance (28.6%), subclinical hypothyroidism (14.5%), and parathyroid dysfunction (14.5%). Overt diabetes and pubertal delay were not seen. A statistically significant association of ferritin was found with age (p < 0.001), stature (p = 0.001), thryroid-stimulating hormone (TSH) (p = 0.004), and parathyroid function (p = 0.006). Conclusions The prevalence of endocrinopathies in present transfusion-dependent thalassemic cohorts was considerably high, presenting as short stature, impaired glucose tolerance, hypoparathyroidism, and subclinical hypothyroidism. The study showed a weak positive correlation of endocrinopathies with serum ferritin levels. Hence, irrespective of serum ferritin levels, patients with transfusion-dependent thalassemia can have a considerably high prevalence of endocrine complications.