Systematic Review of Metabolic and Endocrinological Complications in Beta-Thalassemia Major: Insights from 2021 to 2023

Beta-thalassemia major (BTM) is a recessively inherited hemoglobin disorder characterized by inadequate synthesis of the -globin chain, resulting in severe anemia necessitating frequent blood transfusions. Advances in transfusion and chelation therapies have substantially extended the life expectancy of BTM patients, enabling them to reach their fourth and fifth decades. This systematic review focuses on assessing the incidence of metabolic and endocrinologic complications among individuals with BTM in Saudi Arabia. The review covers studies published between 2021 and 2023, gathered from Google Scholar, Web of Science, Cochrane, and PubMed databases, utilizing keywords such as \"Metabolic,\" \"Endocrinologic,\" \"complications,\" \"beta-thalassemia,\" \"major,\" and \"Saudi Arabia\" in various combinations. Only original research discussing metabolic and endocrinologic complications in BTM was included, yielding nine eligible articles out of a total of 100. Among these, three were cross-sectional, two were descriptive, one was a case report, one was retrospective, and two were prospective analytical studies. The collective study population comprised 891 male and female BTM patients ranging in age from 2 to 35 years. This review reveals a notable prevalence of endocrine complications in BTM patients, with prominent occurrences of short stature, thyroid dysfunctions, growth hormone deficiency, and Diabetes mellitus. Additionally, other reported complications encompassed elevated serum ferritin levels, vitamin D deficiency, delayed puberty, microcytic hypochromic anemia, splenectomy, and heart failure. Remarkably, elevated serum ferritin levels exhibited a strong correlation with increased endocrine disorders, including serum TSH, fasting and postprandial blood glucose levels, and insulin levels in BTM patients.