Alpha-thalassemia is an autosomal recessive disorder. It is more prevalent in Southeast Asia but is also common in the Middle-East and the Mediterranean regions. Mutations in the alpha-globin genes are responsible for alpha-thalassemia. These mutations (deletions, insertions or point mutations) have similar effects on blood indices like MCV, MCH, etc. therefore, it is sometimes necessary to rule out alpha-thalassemia from beta-thalassemia during premarital, preconception and pregnancy screenings. Rapid detection or ruling in/out alpha-thalassemia from beta-thalassemia can reduce costs or confirm presence of alpha-globin gene defect.
Mutations like 3.7kb, 4.2kb, 20.5kb and MED deletions are more prevalent in the Middle East and the Mediterranean regions. The GT HBA Detector is a PCR-based multiplex kit to detect individuals affected or carrier of common alpha-globin gene deletions (3.7kb, 4.2kb, 20.5kb and MED). GT HBA Gap Detector is a multiplex kit for fast and accurate detection of these deletions whenever alpha-globin mutation is suspected or has to be ruled out/in (e.g., in cases where beta-or alpha-thal must be confirmed).
PCR products are analyzed using 1-1.5% agarose gel electrophoresis. We suggest to use 1 kb ladder for rough sizing of fragments and determination of which deletion(s) is/are present.
- Store all components at -20°C
- Avoid repeated freezing-thawing cycles to maintain the good quality of the kit. We recommend to aliquot the components if necessary.