Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH3

The beta thalassemia intermedia phenotype has several genotypes. Hematological and molecular diagnostic approach and logical and sequential conduct of various investigations are necessary for the diagnosis of these disorders. Close observations of the genotype–phenotype correlation will provide a be...

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Detalles Bibliográficos
Autores principales: Kelkar, Anjali J., Moses, Anu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494391/
https://www.ncbi.nlm.nih.gov/pubmed/28680605
http://dx.doi.org/10.1002/ccr3.990
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author Kelkar, Anjali J.
Moses, Anu
author_facet Kelkar, Anjali J.
Moses, Anu
author_sort Kelkar, Anjali J.
collection PubMed
description The beta thalassemia intermedia phenotype has several genotypes. Hematological and molecular diagnostic approach and logical and sequential conduct of various investigations are necessary for the diagnosis of these disorders. Close observations of the genotype–phenotype correlation will provide a better insight for the development of molecular therapy.
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spelling pubmed-54943912017-07-05 Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH3 Kelkar, Anjali J. Moses, Anu Clin Case Rep Case Reports The beta thalassemia intermedia phenotype has several genotypes. Hematological and molecular diagnostic approach and logical and sequential conduct of various investigations are necessary for the diagnosis of these disorders. Close observations of the genotype–phenotype correlation will provide a better insight for the development of molecular therapy. John Wiley and Sons Inc. 2017-05-26 /pmc/articles/PMC5494391/ /pubmed/28680605 http://dx.doi.org/10.1002/ccr3.990 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://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 Case Reports
Kelkar, Anjali J.
Moses, Anu
Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH3
title Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH3
title_full Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH3
title_fullStr Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH3
title_full_unstemmed Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH3
title_short Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH3
title_sort thalassemia intermedia phenotype resulting from rare combination of c.46delt [codon15 (‐t)] mutation of beta globin gene and hpfh3
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494391/
https://www.ncbi.nlm.nih.gov/pubmed/28680605
http://dx.doi.org/10.1002/ccr3.990
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AT mosesanu thalassemiaintermediaphenotyperesultingfromrarecombinationofc46deltcodon15tmutationofbetaglobingeneandhpfh3

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