Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.

ABSTRACT:

Background

Beta thalassemia, related to HBB mutation and associated with elevated hemoglobin A2 (HbA2), is an important genetic hemoglobinopathy with high incidences of disease and carrier rates in Singapore. Carrier screening is essential to facilitate prenatal counseling and testing. However, when individuals with elevated HbA2 do not have an identifiable HBB disease-associated variant, there is ambiguity on risk to their offspring.

Methods

We describe a case report of a proband with elevated HbA2, no identifiable HBB disease-associated variant, whose partner was a beta thalassemia carrier. Through clinical HBB gene sequencing, multiplex ligation-dependent probe amplification (MLPA) analysis, as well as targeted Nanopore long read sequencing of selected genes, we performed

SUBMITTER: Chin HL 

PROVIDER: S-EPMC10767580 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature