Identification of the β thalassemia allele β-50 and analysis of the hematology data of carriers in a southern Chinese population.

Abstract excerpt

During a routine test, we identified a 38-year-old man who had a positive hematology screening result but was negative for hot spot variants of his thalassemia gene. Further analysis identified β-50 (HBB: c.-100G>A). It was first suggested that β-50 was a β+ -thal allele, and some research groups suggested this allele was a silent β-thal allele. To fully understand the hematological phenotype of the β-50 allele,...

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