Targeted NGS is a more straightforward process that provides a one-step combined test to detect sequence variants and copy number events causing alpha- and beta-thalassemia.

Alpha- and beta-thalassemia – can one test meet all needs?

Alpha- and beta-thalassemia are distinct hematologic disorders caused by a defect in globin chain production. There are many thalassemia variants that result in people being carriers but not necessarily patients. Between patients, the history and physical symptoms vary considerably, as do the genetic findings. As migration flows increase, we are seeing more and more patients with "unusual" variants – or thalassemia variants that we are not used to seeing in this population.

Thalassemia is highly heterogeneous and presents challenges to clinicians and laboratories alike. With the changing patterns of thalassemia syndromes, we are seeing increased demand for testing as well as more complicated workflows. In this article, we review the difference between alpha- and beta-thalassemia testing, as well as new technologies to determine thalassemia variants that can reduce turnaround time while giving a complete picture of both alpha and beta variants in a single assay.

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Alpha- and beta-thalassemia – can one test meet all needs?

Alpha- and beta-thalassemia are distinct hematologic disorders caused by a defect in globin chain production. There are many thalassemia variants that result in people being carriers but not necessarily patients. Between patients, the history and physical symptoms vary considerably, as do the genetic findings. As migration flows increase, we are seeing more and more patients with "unusual" variants – or thalassemia variants that we are not used to seeing in this population.

Thalassemia is highly heterogeneous and presents challenges to clinicians and laboratories alike. With the changing patterns of thalassemia syndromes, we are seeing increased demand for testing as well as more complicated workflows. In this article, we review the difference between alpha- and beta-thalassemia testing, as well as new technologies to determine thalassemia variants that can reduce turnaround time while giving a complete picture of both alpha and beta variants in a single assay.