Pakistan Research Repository


Khan, Shaheen N (2000) MOLECULAR CHARACTERIZATION OF THALASSEMIA IN PAKISTAN. PhD thesis, University of the Punjab, Lahore.



Thalassemias are the most common autosomal recessive hemoglobin disorders characterized by the reduction or absence of synthesis of the globin chains of the hemoglobin molecule. In the world population this group of genetic diseases causes far more ill health than any other inherited condition. The most important are -thalassemia , a-thalassemia and HbE-thalassemia. Athalassemia heterozygous person can lead a normal life but homozygous-thalassemia children require continuous blood transfusions and chelation therapy to prevent death from severe anemia. In Pakistan thalassemia is the most common hemoglobin disorder. In a population of nearly 130 million, and with a thalassemia carrier frequency of 5.4%, it is estimated that each year more than 4000 children are born with transfusion dependent thalassemia . The affected children become a great source of socioeconomic burden on their families as good quality and screened blood increases its cost. In addition chelation therapy is also very expensive. Identification of the genetic defects in the carriers for genetic counseling and provision of prenatal diagnosis can reduce the incidence of

Item Type:Thesis (PhD)
Uncontrolled Keywords:hemoglobin, genomic dna, thalassemia, chorionic villi, p-globin gene, amplification refractory mutation system (arms), single strand conformation polymorphism (sscp)
Subjects:Biological & Medical Sciences (c) > Biological Sciences(c1) > Biology (c13)
ID Code:412
Deposited By:Mr. Muhammad Asif
Deposited On:03 Aug 2006
Last Modified:04 Oct 2007 21:00

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