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Hyperhaemolysis in a pregnant woman with a homozygous β(0)‐thalassemia mutation and two genetic modifiers
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. METH...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372088/ https://www.ncbi.nlm.nih.gov/pubmed/33960744 http://dx.doi.org/10.1002/mgg3.1696 |
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author | Jiwu, Lou Manna, Sun Lai, Meixiang Ying, Zhao Yanhui, Liu |
author_facet | Jiwu, Lou Manna, Sun Lai, Meixiang Ying, Zhao Yanhui, Liu |
author_sort | Jiwu, Lou |
collection | PubMed |
description | 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 β(0)‐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. |
format | Online Article Text |
id | pubmed-8372088 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-83720882021-08-23 Hyperhaemolysis in a pregnant woman with a homozygous β(0)‐thalassemia mutation and two genetic modifiers Jiwu, Lou Manna, Sun Lai, Meixiang Ying, Zhao Yanhui, Liu Mol Genet Genomic Med Clinical Reports 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 β(0)‐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. John Wiley and Sons Inc. 2021-05-07 /pmc/articles/PMC8372088/ /pubmed/33960744 http://dx.doi.org/10.1002/mgg3.1696 Text en © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Clinical Reports Jiwu, Lou Manna, Sun Lai, Meixiang Ying, Zhao Yanhui, Liu Hyperhaemolysis in a pregnant woman with a homozygous β(0)‐thalassemia mutation and two genetic modifiers |
title | Hyperhaemolysis in a pregnant woman with a homozygous β(0)‐thalassemia mutation and two genetic modifiers |
title_full | Hyperhaemolysis in a pregnant woman with a homozygous β(0)‐thalassemia mutation and two genetic modifiers |
title_fullStr | Hyperhaemolysis in a pregnant woman with a homozygous β(0)‐thalassemia mutation and two genetic modifiers |
title_full_unstemmed | Hyperhaemolysis in a pregnant woman with a homozygous β(0)‐thalassemia mutation and two genetic modifiers |
title_short | Hyperhaemolysis in a pregnant woman with a homozygous β(0)‐thalassemia mutation and two genetic modifiers |
title_sort | hyperhaemolysis in a pregnant woman with a homozygous β(0)‐thalassemia mutation and two genetic modifiers |
topic | Clinical Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372088/ https://www.ncbi.nlm.nih.gov/pubmed/33960744 http://dx.doi.org/10.1002/mgg3.1696 |
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