1. Hyperhaemolysis in a pregnant woman with a homozygous β 0 -thalassemia mutation and two genetic modifiers.
- Author
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Jiwu L, Manna S, Lai M, Ying Z, and Yanhui L
- Subjects
- Adult, Female, GTP-Binding Proteins genetics, Hemolysis, Homozygote, Humans, Kruppel-Like Transcription Factors genetics, Phenotype, Pregnancy, Proto-Oncogene Proteins c-myb genetics, beta-Thalassemia blood, beta-Thalassemia pathology, Genes, Modifier, beta-Globins genetics, beta-Thalassemia genetics
- Abstract
Introduction: Patients with a homozygous β
0 -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_525dup mutation; and two homozygous HBS1L-MYB locus SNP variants: rs7776054 and rs9399137) were identified. However, she showed a gradually decreased level of Hb during pregnancy, and serious transfusion complication of hyperhaemolysis was induced and complicated the pregnancy., Conclusion: This report is in accordance with previous findings that genetic modifiers can ameliorate the clinical severity of β-thalassemia, even without obvious clinical symptoms in a prolonged steady state. However, the steady state can be disrupted during pregnancy. In addition, raising awareness of hyperhaemolysis among clinicians treating patients with thalassemia is necessary., (© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)- Published
- 2021
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