Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases

Unstable hemoglobinopathies (UHs) are rare anemia disorders in which abnormal hemoglobin variants precipitate easily due to decreased stability, causing hemolysis and sometimes leading to dominant beta thalassemia (dBTHAL). Because conventional testing does not uncover most cases of UH, diagnosis requires a high index of suspicion. In this report, the authors highlight use of next-generation sequencing for the diagnosis of dBTHAL as well as other less severe UH variants.

Frontiers in Physiology