Thalassemia and related hemoglobinopathies

Abstract

Hemoglobinopathies are the most common single gene disorders in man. There are several hundred of these disorders though the thalassemias -- alpha and beta and the sickling disorders make up the vast majority. Recent advances in the understanding of the hemoglobin structure and the genetics of its synthesis has contributed significantly to the understanding of these diseases. Disorders include those with reduced globin synthesis, abnormal globin chains and failure to switch globin chain synthesis at the appropriate age. This review focuses on the clinical features, diagnosis and management strategies of the alpha and beta thalassemias, the sickling disorders and touches on a few rarer hemoglobinopathies. It also emphasizes prevention strategies and chronic transfusion safety in countries like India where there are limited resources.

Prenatal Diagnosis of Sickle Cell Disease by the Technique of PCR

“…The cumulative gene frequency of haemoglobinopathies in India is 4.2 % [2]. Among various hemoglobinopathies, prevalence of Sickle cell gene is especially high in Central India [3,4].…”

MCV-MCH Value and One Tube Osmotic Fragility Test (OTOFT) Method for Thalassemia Trait Detection in Pregnancies

“…It was seen that the average number of erythrocytes greater than 4.106 / mm 3 . When compared with the average overall number of erythrocytes on examination OTOFT positive slightly increase, at 4.13.106 / mm 3 .…”

“…It was seen that the average number of erythrocytes greater than 4.106 / mm 3 . When compared with the average overall number of erythrocytes on examination OTOFT positive slightly increase, at 4.13.106 / mm 3 . while results Sanchaisuriya research normal population of pregnant women at 4.1 ± 0.4 106 / mm 3 [15].…”

“…Alpha thalassemia was due to mutations in genes that regulate the production of α-globin chains, whereas β thalassemia is due to mutations of genes that form the β-globin chain [1][2][3][4][5]. Thalassemia inherited from both parents who each carry a thalassemia trait.…”

Spectrum of Types of Thalassemias and Hemoglobinopathies: Study in a Tertiary Level Children Hospital in Bangladesh

“…[4][5][6] HbS gene is mainly seen in Central India like Maharashtra, Madhya Pradesh and Gujarat while it is rare in other states of India. 9 Hb S gene is characterized by replacement of glutamine to valine at position 6 of beta globin chain. 10 δβthalassemia was presumably diagnosed in 1case only ( 0.02%) while Uddin et al reported in 3 cases (0.5%) but interestingly it was not reported in three large study of hemoglobin pattern in Eastern India.…”