THALASSEMIA: THE HEREDITARY RECESSIVE DISEASE IN SILENT CARRIERS: NEW VIEWPOINTS IN SCREENING TEST
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Abstract
The thalassemias are a group of hereditary hemolytic anemia disease that result from inherited defects in the synthesis of globin. There are two main forms – alpha thalassemia and beta thalassemia, each with various subtypes; which 7 % of worldwide population carry hemolytic genes, from 60.000 – 70.000 newborns confronted with severe Beta Thalassemia. Thalassemia is an autosomal recessive hereditary, which means the relevance in two genders is equivalent. If both husbands and wives are carriers, one fourth of their descendants are affected, half are heterozygotes, and one fourth are normal. Thalassemia patients require red blood cell transfusion, with or without iron chelation therapy throughout their life, creating burdens to their physical and mental health, negative effects to quality of life. And invisibly, exposes them to be an economic burden for family and society when they suffer huge treatment costs. The establishment of diagnosis is usually late with anemia as a clinical symptom, and through blood test, hemoglobin electrophoresis. However, due to the development of biotechnology science, prenatal diagnosis to carrier screening based on autosomal recessive shows the promise in Thalassemia diagnosis and treatment.
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