T H A L A S S E M I A

In thalassemia, the body doesn't produce enough haemoglobin, an essential protein in red blood cells. Thalassemia, being an autosomal recessive disorder, both parents must have the condition or be carriers for their children to be affected It results from either a mutation in the genome or the loss of specific crucial gene segments (Bajwa & Basit, 2022). Naturally, when haemoglobin production is low, it will result in a restricted oxygen supply throughout the body. This can lead to Anemia, which makes a person feel exhausted, frail, or out of breath Anemia in thalassemia patients can range from mild to severe Severe Anemia can lead to organ damage and possibly death (CDC, 2020).

The oxygen-transporting protein found in red blood cells is called haemoglobin. There are two proteins in it - an alpha and a beta In alpha-thalassemia, alphaglobin chains are reduced or absent; whereas in betathalassemia, beta-globin chains are reduced or absent (Muncie & Campbell, 2009) Beta-thalassemia causes an overabundance of unpaired alpha-globin chains that accumulate and precipitate. This in turn disrupts the red cell membranes and causes intravascular hemolysis In patients with betathalassemia co-inheriting with alpha-thalassemia, the imbalance between the beta and beta chains is less severe (Bajwa & Basit, 2022)

Iron overload is a frequently occurring consequence of thalassaemia disorders and has been linked to higher mortality and damage to the organs Within a year of initiating the frequent transfusions, iron accumulates in the parenchymal tissues of such patients Those with Thalassemia face a significant risk of contracting viruses like hepatitis. Nearly all thalassemia patients also have osteoporosis, which causes bone fissures and other symptoms like discomfort (Ali et al., 2021). Thalassemia includes a few other complications such as hyperbilirubinemia, jaundice, gallstones, slowed growth rate, delayed puberty, and high-output cardiac failure (Bajwa & Basit, 2022)