β-Thalassemia intermedia: morbidity uncovered

Abstract

The research presented in this thesis provides several novel insights regarding the _-thalassemia intermedia phenotype. Earlier studies observed that patients with _-thalassemia intermedia experience a clinical complications profile that is different from that in patients with _-thalassemia major; which was primarily attributed to their transfusion-independence. In this work, a variety of clinical morbidities were explored and their associations with the underlying disease pathophysiology and risk factors were examined. The morbidities evaluated throughout the studies involved several organs and organ systems including the vasculature (venous thrombosis, pulmonary artery hypertension, cerebrovascular disease, and leg ulcers), heart, liver, kidney, endocrine glands (diabetes mellitus, hypothyroidism, and hypogonadism), bone (osteoporosis), and the hematopoietic system (extramedullary hematopoietic tumors). Findi ngs confirm that _-thalassemia intermedia should no longer be regarded as a mild form of thalassemia as patients experience serious manifestations involving almost every organ system.