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Thalassemia:
•Inherited blood disorder
Risk factors and symptoms of thalassemia:
•Family history of thalassemia Symptoms
Prevalence and incidence:
Objectives:
•Determine the polymorphic association of rs4671393 in the patients of
thalassemia in the population of Punjab, Pakistan.
•Determine the ratio of fetal hemoglobin in the patients of thalassemia of any
age, gender and family history linked with BCL11A and with SNP rs4671393.
BCL11A:
•Fetal hemoglobin
•Fetal switch
•rs4671393 variant of BCL11A
Research methodology:
•Sampling
•Confirmation of samples
•DNA extraction
•Primer designing
•DNA amplification
•Confirmation of amplicon
•Test for presence of mutations
Results:
•Demographic table for polymorphic analysis:
Allele and genotype frequencies of selected SNP of BCL11A in patients and controls:
Association of BCL11A polymorphism with gender:
Association of BCL11A polymorphism with age:
Association of BCL11A polymorphisms with family history
Conclusion:
•Results shows significant association ofrs4671393 of BCL11A with the
increasing risk of thalassemia.
•Demographic parameters also show significant association with thalassemia.
Consent performa:

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