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

ABSTRACT:

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 pregnant woman. She had not presented any clinical symptoms of β-thalassemia since birth. To investigate her unexpected mild phenotype, known genetic modifiers that ameliorate the severity of β-thalassemia were analysed. Besides, we described the haematological changes during pregnancy.

Results

Two genetic modifiers (a heterozygous KLF1: c.519_

SUBMITTER: Jiwu L 

PROVIDER: S-EPMC8372088 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature