A simple NGS method for detection of sequence variants causing alpha and beta thalassemia

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A simple NGS method for detection of sequence variants causing alpha and beta thalassemia

Thalassemias are inherited blood disorders characterized by abnormal hemoglobin production. Depending on the type and number of variants, the symptoms can vary from none to severe forms where stem cell transplantation is the only curative treatment. Today, many different methods are available for variant analysis of thalassemia patients. These include ARMS-PCR, restriction-enzyme PCR, GAP-PCR, Sanger sequencing, LIPA and MLPA. The use of different methods may be time consuming and expensive, especially when analyzing less common deletions.