HISTORICAL PERSPECTIVE AND PREVALENCE
The Thalassemias are agroup of congenital anemia that have in common deficient synthesis of one or more of the globinsubunits of the normal human hemoglobin , particularly common in the Mediterranean region and southeast Asia .Over 180 million people in the world and 20 million in India carry the gene for β-thalassemia.
Fig : distribution of beta thalassemia
There is very little evidence that it was recognized as a specific clinical entity before its first clinicaldescription in 1925 . But by the start of the 20th century clinician were becoming aware of the syndromeof splenic anemia of infancy, which was first described by Rudolf Von Jaksch – Warterhorst and it became a common practice to describe any unusual anemia in infancy as “Von Jaksch’s anemia” , particularly if the spleen was enlarged. The credit for the first clinical description of the condition whichlater became known as thalassemia is given to the American pediatrician Thomas B. Cooley , in 1925.The term ‘thalassemia’ was introduced by Whipple and Bradford in 1932.The word is taken from theGreek word ‘thalassa’, meaning the sea , indicating its Mediterranean connection.
GENETIC MECHANISM AND MOLECUAR PATHOLOGY
β-thalassemia isan autosomal recessively inherited disorder. The β-globin gene is located in the short arm of chromosome 11 in a region containing the δ-gene, the embryonic ε-gene , the fetal Gγ and Aγ genes, β-gene and the pseudogene ψβ
. The five functional globin genes are arranged in the order of their developmental expression .