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Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia

Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of hereditary diseases. Mutations in the HAX1 gene can cause an autosomal recessive form of SCN-characterized low blood neutrophil count from birth, increased susceptibility to recurrent and life-threatening in...

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Autores principales: Tran, Tham Thi, Vu, Quang Van, Wada, Taizo, Yachie, Akihiro, Le Thi Minh, Huong, Nguyen, Sang Ngoc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288574/
https://www.ncbi.nlm.nih.gov/pubmed/30598852
http://dx.doi.org/10.1155/2018/2798621
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author Tran, Tham Thi
Vu, Quang Van
Wada, Taizo
Yachie, Akihiro
Le Thi Minh, Huong
Nguyen, Sang Ngoc
author_facet Tran, Tham Thi
Vu, Quang Van
Wada, Taizo
Yachie, Akihiro
Le Thi Minh, Huong
Nguyen, Sang Ngoc
author_sort Tran, Tham Thi
collection PubMed
description Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of hereditary diseases. Mutations in the HAX1 gene can cause an autosomal recessive form of SCN-characterized low blood neutrophil count from birth, increased susceptibility to recurrent and life-threatening infections, and preleukemia predisposition. A 7-year-old boy was admitted due to life-threatening infections, mental retardation, and severe neutropenia. He had early-onset bacterial infections, and his serial complete blood count showed persistent severe neutropenia. One older sister and one older brother of the patient died at the age of 6 months and 5 months, respectively, because of severe infection. Bone marrow analysis revealed a maturation arrest at the promyelocyte/myelocyte stage with few mature neutrophils. In direct DNA sequencing analysis, we found a novel homozygous frameshift mutation (c.423_424insG, p.Gly143fs) in the HAX1 gene, confirming the diagnosis of SCN. The patient was successfully treated with granulocyte colony-stimulating factor (G-CSF) and antibiotics. A child with early-onset recurrent infections and neutropenia should be considered to be affected with SCN. Genetic analysis is useful to confirm diagnosis. Timely diagnosis and suitable treatment with G-CSF and antibiotics are important to prevent further complication.
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spelling pubmed-62885742018-12-31 Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia Tran, Tham Thi Vu, Quang Van Wada, Taizo Yachie, Akihiro Le Thi Minh, Huong Nguyen, Sang Ngoc Case Rep Pediatr Research Article Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of hereditary diseases. Mutations in the HAX1 gene can cause an autosomal recessive form of SCN-characterized low blood neutrophil count from birth, increased susceptibility to recurrent and life-threatening infections, and preleukemia predisposition. A 7-year-old boy was admitted due to life-threatening infections, mental retardation, and severe neutropenia. He had early-onset bacterial infections, and his serial complete blood count showed persistent severe neutropenia. One older sister and one older brother of the patient died at the age of 6 months and 5 months, respectively, because of severe infection. Bone marrow analysis revealed a maturation arrest at the promyelocyte/myelocyte stage with few mature neutrophils. In direct DNA sequencing analysis, we found a novel homozygous frameshift mutation (c.423_424insG, p.Gly143fs) in the HAX1 gene, confirming the diagnosis of SCN. The patient was successfully treated with granulocyte colony-stimulating factor (G-CSF) and antibiotics. A child with early-onset recurrent infections and neutropenia should be considered to be affected with SCN. Genetic analysis is useful to confirm diagnosis. Timely diagnosis and suitable treatment with G-CSF and antibiotics are important to prevent further complication. Hindawi 2018-11-27 /pmc/articles/PMC6288574/ /pubmed/30598852 http://dx.doi.org/10.1155/2018/2798621 Text en Copyright © 2018 Tham Thi Tran et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Tran, Tham Thi
Vu, Quang Van
Wada, Taizo
Yachie, Akihiro
Le Thi Minh, Huong
Nguyen, Sang Ngoc
Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia
title Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia
title_full Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia
title_fullStr Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia
title_full_unstemmed Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia
title_short Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia
title_sort novel hax1 gene mutation in a vietnamese boy with severe congenital neutropenia
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288574/
https://www.ncbi.nlm.nih.gov/pubmed/30598852
http://dx.doi.org/10.1155/2018/2798621
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