Hyperhaemolysis in a pregnant woman with a homozygous β0 -thalassemia mutation and two genetic modifiers.

Abstract excerpt

INTRODUCTION: Patients with a homozygous β0 -thalassemia mutation usually have a transfusion-dependent β-thalassemia major phenotype. However, some β-thalassemia patients present with a relatively mild and even normal phenotype and always have a high level of Hb F induced by genetic modifiers. METHODS: In this study, we identified a homozygous β0 -thalassemia mutation (HBB: c.126_129delCTTT) in a 36-year-old...

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