Genomics

Genomics

Ten year girl Annah was my most favorite patient while working in pediatric out-patient department . She was a cute girl who would walk in with her father every 3 weeks for packed cell transfusion . She suffered from a genetic disease called beta- thalassemia . Her parents are first cousins , but of them suffered from any clinical symptoms . My heart cries for that girl because simple premarital screening , or even some pregnancy tests can prevent the birth of thalassemia kids . Many countries in the world have made premarital screening for thalassemia mandatory

. I propose that all countries must make these tests mandatory and it is the responsibility of the government and health authorities to educate all couples to get screened for this disease to prevent thalassemia offsprings

Thalassemias are a group of heterogeneous inherited diss caused by genetic defects as a consequence of which decreased synthesis of either the alpha or beta chain of HbA occurs (Aster , 2007 , pg .632 When deficient synthesis of beta chain occurs , it is known as beta-thalassemia and when alpha synthesis is affected , it is known as alpha-thalassemia ? and ? chains . Thalassemias involving ? and ? globin chain synthesis have also been described but are not common . The gene for coding beta chain is on chromosome 11 . In ?- thalassemia the defects in the genes are mainly point mutations . There are about 100 different point mutations known to cause beta- thalassemia . Some of the common mutations are thalassemia or thalassemia minor (Aster , 2007

2 . Chain terminator mutations : There...