Severe α-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation

HBA2: We report a novel mutation at codon 24 of the α2-globin gene (HBA2: c.75T > A) found in a Sundanese family. This novel mutation was detected during prenatal diagnosis. The couple already had a 7-year-old boy who exhibited clinically severe α-thalassemia intermedia (α-TI), and he was found t...

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Autores principales: Megawati, Dewi, Nainggolan, Ita M., Swastika, Maria, Susanah, Susi, Mose, Johanes C., Harahap, Alida R., Setianingsih, Iswari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Informa Healthcare USA, Inc. 2014
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3971804/
https://www.ncbi.nlm.nih.gov/pubmed/24351118
http://dx.doi.org/10.3109/03630269.2013.863206
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author Megawati, Dewi
Nainggolan, Ita M.
Swastika, Maria
Susanah, Susi
Mose, Johanes C.
Harahap, Alida R.
Setianingsih, Iswari
author_facet Megawati, Dewi
Nainggolan, Ita M.
Swastika, Maria
Susanah, Susi
Mose, Johanes C.
Harahap, Alida R.
Setianingsih, Iswari
author_sort Megawati, Dewi
collection PubMed
description HBA2: We report a novel mutation at codon 24 of the α2-globin gene (HBA2: c.75T > A) found in a Sundanese family. This novel mutation was detected during prenatal diagnosis. The couple already had a 7-year-old boy who exhibited clinically severe α-thalassemia intermedia (α-TI), and he was found to be a compound heterozygote for the novel mutation at codon 24 and the previously described Hb Adana (HBA2: c.179G > A) at codon 59 of the α2-globin gene. The father was a carrier of the novel point mutation and showed normal hemoglobin (Hb) and a low mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) value.
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spelling pubmed-39718042014-04-07 Severe α-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation Megawati, Dewi Nainggolan, Ita M. Swastika, Maria Susanah, Susi Mose, Johanes C. Harahap, Alida R. Setianingsih, Iswari Hemoglobin Short Communication HBA2: We report a novel mutation at codon 24 of the α2-globin gene (HBA2: c.75T > A) found in a Sundanese family. This novel mutation was detected during prenatal diagnosis. The couple already had a 7-year-old boy who exhibited clinically severe α-thalassemia intermedia (α-TI), and he was found to be a compound heterozygote for the novel mutation at codon 24 and the previously described Hb Adana (HBA2: c.179G > A) at codon 59 of the α2-globin gene. The father was a carrier of the novel point mutation and showed normal hemoglobin (Hb) and a low mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) value. Informa Healthcare USA, Inc. 2014-04 2013-12-18 /pmc/articles/PMC3971804/ /pubmed/24351118 http://dx.doi.org/10.3109/03630269.2013.863206 Text en © 2014 Informa Healthcare USA, Inc. All rights reserved: reproduction in whole or part not permitted http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the source is credited.
spellingShingle Short Communication
Megawati, Dewi
Nainggolan, Ita M.
Swastika, Maria
Susanah, Susi
Mose, Johanes C.
Harahap, Alida R.
Setianingsih, Iswari
Severe α-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation
title Severe α-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation
title_full Severe α-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation
title_fullStr Severe α-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation
title_full_unstemmed Severe α-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation
title_short Severe α-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation
title_sort severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable hb adana (hba2: c.179g>a) and a novel codon 24 (hba2: c.75t>a) mutation
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3971804/
https://www.ncbi.nlm.nih.gov/pubmed/24351118
http://dx.doi.org/10.3109/03630269.2013.863206
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