Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children
Chanchai Traivaree,1,* Boonchai Boonyawat,2,* Chalinee Monsereenusorn,1 Piya Rujkijyanont,1 Apichat Photia1 1Division of Hematology/Oncology, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand; 2Division of Genetics, Department of Pediatrics, Phramongkutkla...
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doaj-a9ea02e2636d4249861faa6d79b88a7f2020-11-24T22:46:06ZengDove Medical PressThe Application of Clinical Genetics1178-704X2018-04-01Volume 11233037524Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai childrenTraivaree CBoonyawat BMonsereenusorn CRujkijyanont PPhotia AChanchai Traivaree,1,* Boonchai Boonyawat,2,* Chalinee Monsereenusorn,1 Piya Rujkijyanont,1 Apichat Photia1 1Division of Hematology/Oncology, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand; 2Division of Genetics, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand *These authors contributed equally to this work Background: α-Thalassemia, one of the major thalassemia types in Thailand, is caused by either deletion or non-deletional mutation of one or both α-globin genes. Inactivation of three α-globin genes causes hemoglobin H (Hb H) disease, and the combination of Hb H disease with heterozygous hemoglobin E (Hb E) results in AE Bart’s disease. Objective: This study aimed to characterize the clinical and hematological manifestations of 76 pediatric patients with Hb H and AE Bart’s diseases treated at Phramongkutklao Hospital, a tertiary care center for thalassemia patients in central Thailand.Patients and methods: Seventy-six unrelated pediatric patients, 58 patients with Hb H disease and 18 patients with AE Bart’s disease, were enrolled in this study. Their clinical presentations, transfusion requirement, laboratory findings, and mutation analysis were retrospectively reviewed and analyzed.Results: A total of 76 pediatric patients with Hb H and AE Bart’s diseases who mainly lived in central Thailand were included in this study. The clinical severities of patients with non-deletional mutations were more severe than those with deletional mutations. Eighty-six percent of patients with non-deletional AE Bart’s disease required more blood transfusion compared to 12.5% of patients with deletional AE Bart’s disease. Non-deletional AE Bart’s disease also had a history of urgent blood transfusion with the average of 6±0.9 times compared to 1±0.3 times in patients with deletional Hb H disease. The difference was statistically significant.Conclusion: This study revealed the differences in clinical spectrum between patients with Hb H disease and those with AE Bart’s disease in central Thailand. The differentiation of α-thalassemia is essential for appropriate management of patients. The molecular diagnosis is useful for diagnostic confirmation and genotype–phenotype correlation. Keywords: genotype, phenotype, Hb H disease, AE Bart’s disease, Thai childrenhttps://www.dovepress.com/clinical-and-molecular-genetic-features-of--hb-h-and-ae-bartrsquos-dis-peer-reviewed-article-TACGGenotypePhenotypeHb H diseaseAE Bart’s diseaseThai children |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Traivaree C Boonyawat B Monsereenusorn C Rujkijyanont P Photia A |
spellingShingle |
Traivaree C Boonyawat B Monsereenusorn C Rujkijyanont P Photia A Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children The Application of Clinical Genetics Genotype Phenotype Hb H disease AE Bart’s disease Thai children |
author_facet |
Traivaree C Boonyawat B Monsereenusorn C Rujkijyanont P Photia A |
author_sort |
Traivaree C |
title |
Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children |
title_short |
Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children |
title_full |
Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children |
title_fullStr |
Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children |
title_full_unstemmed |
Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children |
title_sort |
clinical and molecular genetic features of hb h and ae bart’s diseases in central thai children |
publisher |
Dove Medical Press |
series |
The Application of Clinical Genetics |
issn |
1178-704X |
publishDate |
2018-04-01 |
description |
Chanchai Traivaree,1,* Boonchai Boonyawat,2,* Chalinee Monsereenusorn,1 Piya Rujkijyanont,1 Apichat Photia1 1Division of Hematology/Oncology, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand; 2Division of Genetics, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand *These authors contributed equally to this work Background: α-Thalassemia, one of the major thalassemia types in Thailand, is caused by either deletion or non-deletional mutation of one or both α-globin genes. Inactivation of three α-globin genes causes hemoglobin H (Hb H) disease, and the combination of Hb H disease with heterozygous hemoglobin E (Hb E) results in AE Bart’s disease. Objective: This study aimed to characterize the clinical and hematological manifestations of 76 pediatric patients with Hb H and AE Bart’s diseases treated at Phramongkutklao Hospital, a tertiary care center for thalassemia patients in central Thailand.Patients and methods: Seventy-six unrelated pediatric patients, 58 patients with Hb H disease and 18 patients with AE Bart’s disease, were enrolled in this study. Their clinical presentations, transfusion requirement, laboratory findings, and mutation analysis were retrospectively reviewed and analyzed.Results: A total of 76 pediatric patients with Hb H and AE Bart’s diseases who mainly lived in central Thailand were included in this study. The clinical severities of patients with non-deletional mutations were more severe than those with deletional mutations. Eighty-six percent of patients with non-deletional AE Bart’s disease required more blood transfusion compared to 12.5% of patients with deletional AE Bart’s disease. Non-deletional AE Bart’s disease also had a history of urgent blood transfusion with the average of 6±0.9 times compared to 1±0.3 times in patients with deletional Hb H disease. The difference was statistically significant.Conclusion: This study revealed the differences in clinical spectrum between patients with Hb H disease and those with AE Bart’s disease in central Thailand. The differentiation of α-thalassemia is essential for appropriate management of patients. The molecular diagnosis is useful for diagnostic confirmation and genotype–phenotype correlation. Keywords: genotype, phenotype, Hb H disease, AE Bart’s disease, Thai children |
topic |
Genotype Phenotype Hb H disease AE Bart’s disease Thai children |
url |
https://www.dovepress.com/clinical-and-molecular-genetic-features-of--hb-h-and-ae-bartrsquos-dis-peer-reviewed-article-TACG |
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