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Popularity of beta thalasee thalaseemia major and trait

Thalaseemia was first described in a child with severe anemia, splenomegally and characteristic bone changes in 1925 by Thomas cooley and peael lee , the name was originated from the greek word thala ( sea ) and meas ( Blood ) which means Mediterranean , hence etymology of thalaseemia was first used in 1932 and indicate that it commonly occurs in patients of Mediterranean countries.Normal hemoglobin is composed of four protein chains, two alpha and two beta globin chains arranged into a heterotermer, the Thalaseemia are divided into alpha and Beta thalaseemias ,the former results from deletion of alpha gene located on chromosome 16 while Beta thalaseemias is caused by genetic defect like mutation on the chromosome 11 leading to either complete absence of or decreased synthesis of beta chain. The severity of disease depends upon homozygous state, if children both parents are carriers of beta thalasemia then (B0/B0) or beta thalasemia major developed in which there is complete lack of synthesis of beta chain. If one parent is carrier and other is normal then (B+) thalasemia minor occur in which there is decrease synthesis of beta chain. Patients with beta thalasemia major present with severe type of haemolytic anemia appear of 06 month of age when fetal hemoglobin change into the adult hemoglobin, other features include hepatosplenomegaly, mangol like face due to the bone changes are common findings. According to the results of the survey carried out by Ministry of health and national hemoglobinopathy councin, mean beta thalassemia trait prevalence of the sixteen mostly common centers in Mediterranean region was 4.3%. Prevention of hemoglobinopaties that are important causes of mortality and morbidity with premarital screening and prenatal diagnose is possible. Thus determinations of carriage and premarital screening tests in highly prevalent regions have great importance. Very Happy
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