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Thallasemia Seminar

Thallasemia Seminar

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Published by dr vivek
current concepts
current concepts

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Published by: dr vivek on Jan 02, 2009
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09/14/2012

 
BETA THALLASSEMIA
:
CURRENT CONCEPTS INMANAGEMENT
 
MODERATOR PRESENTER DR. K. K. GUPTA VIVEK KUMAR 
 
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
1
. The five functional globin genes are arranged in the order of their developmental expression .
 
The appropriate expression of the different β-like globin genes in erythroid tissues duringdevelopment depends on a major regulatory region named the Locus Control region (LCR) ,located 5 to 25 kb upstream from globin gene . More than 200 different mutations producing β-thalassemia have been so far described ; the large majority are point mutations in functionallyimportant sequences , where as in contrast of alpha thalassemia , gene deletion is rare cause of  beta thalassemia . Beta thalassemia mutations result in either a complete absence of globinchain (β
0
-thalassemia ) or a largely variable reduction of globin output (β
+
-thalassemia ) . Point mutations resulting in beta thalassemia are single nucleotide substitution or oligonucleotide insertions/deletions that affect the β-gene expression by a variety of mechanism.
 
β-globin gene complex (chromosome 11p)

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