Genetic Analysis of Two Patients with Compound Thalassemia Presenting with Elevated HbF and Normal HbA2 Levels.

Abstract excerpt

β-Thalassemia is a common inherited disorder caused by reduced or absent expression of the β-globin gene (HBB). In routine screening, co-inherited modifying mutations can result in normal HbA2 levels even in the presence of elevated HbF, potentially masking a diagnosis of heterozygous β-thalassemia. Here, we report two women of reproductive age who presented with microcytosis, hypochromia, normal HbA2, and...

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