Article
Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counseling.
Molecular genetics & genomic medicine - 1 Jan 2024
Chin Hui-Lin, Benton Miles C, Yang Lin, Poon Kok Siong, Tan Karen M L, Jamuar Saumya S, Foo Roger, Law Hai Yang, Goh Denise Li-Meng, Chong Samuel S, de Sessions Paola Florez
Abstract excerpt
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...
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