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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Main Authors: Traivaree C, Boonyawat B, Monsereenusorn C, Rujkijyanont P, Photia A
Format: Article
Language:English
Published: Dove Medical Press 2018-04-01
Series:The Application of Clinical Genetics
Subjects:
Online Access:https://www.dovepress.com/clinical-and-molecular-genetic-features-of--hb-h-and-ae-bartrsquos-dis-peer-reviewed-article-TACG
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spelling 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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