An overview on Thalassemia

Hiteksha Maruti Kajale , Amruta Krishnakant Indalkar , Senerita Abhijeet Kamble , Pranita Bapu Naykinde , Shantanu Subhash Fasale

beta-thalassemia, Haemoglobin, hypochromic microcytic anaemia, hemolytic anaemia, erythropoiesis, hyperhydration, NTDT group.

Thalassemia, which means "sea," and haema, which means "of blood," are the Greek terms from which thalassemia is derived. Globally an estimated 300-400 thousand infants are born each year with significant hereditary haemoglobin disorders, and about 80 million are beta- thalassemia carriers. As per the 2011 Census of India , the average prevalence of b-thalassemia trait in India is 3-4%, meaning that there are 42 million carriers out of 1.21 billion persons. Population screening has revealed a greater frequency of carrier status in some populations, including tribal groups in Odisha and Gujarat, as well as Sindhis, Punjabis, Gujaratis, Bengalis, Mahars, Kolis, and Lohanas . Hemoglobin E (Hb E) is another type of thalassemia. A missense mutation at codon 26 is the cause of Hb E thalassemia. Co-inheritance of thalassemia and Hb E is prevalent in countries like southeast Asia, India and Bangladesh. Patients with Hb E or beta thalassemia have higher risk of pulmonary hypertension or vitamin D deficiency. Hemoglobin H can induce chronic hypochromic microcytic anemia and hemolytic anemia, which can exacerbate during times of oxidative stress. This can be successfully broken down into inefficient erythropoiesis and enhanced hemolysis. Microcytic hypochromic anemia is caused by diminished alpha chain synthesis and cell hyperhydration, which impairs hemoglobin production. It is unclear what causes hyperhydration in alpha thalassemia. According to one explanation, the K-Cl cotransporter stops early, preventing the regular loss of K-Cl and water during red blood cell remodeling. Patients with non-transfusion-dependent thalassemia are individuals who, under specific conditions, such as pregnancy, surgery, or infection, occasionally need a red blood transfusion. Patients with hemoglobin H illness and certain cases of hemoglobin E/?-thalassemia, as well as those with moderately severe thalassemia, are included in the NTDT group. Previous research has shown that patients with thalassemia experience a number of disease-related complications. Thalassemia treatment depends on the type and severity of the disease. The sort of treatment a person receives is determined by the severity of their thalassemia. The more severe the thalassemia, the less hemoglobin the body has, which can lead to severe anemia. These article is given for the awareness of thalassemia.

Volume 13 Issue 10, October-2025

Pages : b557-b578