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.

In this whitepaper by Mehmet Uzunel Ph.D., Devyser, Stockholm, Sweden, demonstrates an amplicon based NGS method using only ONE oligo-mix to detect virtually all known variants for alpha and beta thalassemia. 

• Evaluation of clinical samples shows that 15% of the samples with confirmed variants have additional variants that have not been tested for.
• These findings demonstrate the need for a method that simultaneously can detect variants involved in both alpha- and beta-thalassemia.
• The Devyser Thalassemia kit is simple, user-friendly and efficiently detects variants causing thalassemia.