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A0174
Alpha Thalassemia Mutation Detection
Number of Tests 5
Test Included α3.7, α4.2, αFIL, αSEA, αTHAI
Test Details: Alpha thal is an autosomal recessive inherited disorder caused by deletions in the HBA1 and HBA2 gene responsible for haemoglobin production leading to reduced or absent production of alpha globin chains. This test is used to detect the genetic base of alpha globin disorders. The disease is characterized by anemia, hepatosplenomegaly and iron overload due to repeated blood transfusion. α+-thalassemia is caused by single-gene deletions such as 3.7 and 4.2 whereas α0-thalassemia is caused by double-gene deletions such as -20.5, SEA, MED, THAI and FIL. An impaired production of alpha globin chains may lead to four clinical conditions: silent carrier, alpha trait, HbH disease and Hb Bart’s hydrops fetalis syndrome.
Category
Molecular Genetics
Pre-test Information
Clinical history and HPLC report are mandatory.
Report Delivery
5 working days
Gender
All
Organ
Blood
Alpha Thalassemia Mutation Detection
3500
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