Clinical Complications of Beta-Thalassemia Major

Abstract

Beta thalassemia syndrome (β-TM) syndrome is a group of hereditary blood disorders that are mainly characterized by reduction or absence of β-globin chain synthesis. Without iron chelation therapy (ICT) the regular blood transfusion would increase the iron stores to several times. Endocrine glands are vulnerable to iron overload causing endocrine dysfunction. Iron deposition within the parathyroid gland causes hypoparathyroidism particularly after ten years of age. Pancreatic islets are very susceptible to oxidative damage due to iron overload; their high divalent metal expression makes them highly susceptible to iron-catalyzing oxidative stress. The pathogenicity of osteopathy in β-TM is multifactorial comprising environmental (diet and lifestyle), iatrogenic (medicines), genetic and acquired factors (expansion of bone marrow, hemochromatosis, deficiency of growth hormone, hepatitis and hypogonadism). The increase in blood transfusion and RBCs break down in addition to iron accumulation and deposition are the main factors causing splenomegaly. Liver disease is one of the major complications affecting patients with β-TM.Liver damage is multifactorial with iron overload is considered the main causative factor, as well as hepatitis C (HCV) and hepatitis B (HBV) infections which are acquired on recurrent blood transfusions. The free radicals of deposited iron overcome the cellular antioxidant mechanisms resulting in peroxidative cellular injury. As a result, iron overload is the leading cause of left ventricular cardiomyopathy development.

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

“…10 Multi-blood transfusions in thalassemiamajor patients cause iron deposition in the parathyroid gland that results in decreased parathyroid hormone (PTH), which in turn causes hypoparathyroidism. 11 Patients with thalassemia have a high risk of getting diabetes mellitus (DM). Iron accumulation in pancreatic beta cells damages these cells, and, thus, insulin resistance (IR) is moderated.…”