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Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review
Hemoglobin (Hb) Agrinio is a rare non-deletional a-globin mutation observed almost exclusively in Greek, Spanish or other Mediterranean families. The clinical manifestations of a carrier of a single Hb Agrinio mutation (single heterozygosity) depend on the concomitant presence or absence of other mu...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10443284/ https://www.ncbi.nlm.nih.gov/pubmed/37606495 http://dx.doi.org/10.3390/hematolrep15030050 |
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author | Diamantidis, Michael D. Pitsava, Stefania Zayed, Omar Argyrakouli, Ioanna Karapiperis, Konstantinos Chatzoulis, Christos Alexiou, Evangelos Manafas, Achilles Tsangalas, Evangelos Karakoussis, Konstantinos |
author_facet | Diamantidis, Michael D. Pitsava, Stefania Zayed, Omar Argyrakouli, Ioanna Karapiperis, Konstantinos Chatzoulis, Christos Alexiou, Evangelos Manafas, Achilles Tsangalas, Evangelos Karakoussis, Konstantinos |
author_sort | Diamantidis, Michael D. |
collection | PubMed |
description | Hemoglobin (Hb) Agrinio is a rare non-deletional a-globin mutation observed almost exclusively in Greek, Spanish or other Mediterranean families. The clinical manifestations of a carrier of a single Hb Agrinio mutation (single heterozygosity) depend on the concomitant presence or absence of other mutations or variants in the beta, alpha or other modifying genes. We present a Greek patient harboring a Hb Agrinio variant plus the - -Med alpha deletional allele, having an infrequent severe form of alpha thalassemia, in contrast to the typical alpha thalassemic patient and requiring regular red blood cell (RBC) transfusions and chelation treatment. We also provide a concise literature review regarding alpha thalassemic hemoglobin variants and their molecular and clinical combinations. A phase 2, double-blind, randomized, placebo-controlled, multicenter clinical trial to determine the efficacy and safety of luspatercept (BMS-986346/ACE-536) for the treatment of anemia in adults with alpha thalassemia with the participation of our center is currently recruiting patients (NCT05664737). |
format | Online Article Text |
id | pubmed-10443284 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-104432842023-08-23 Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review Diamantidis, Michael D. Pitsava, Stefania Zayed, Omar Argyrakouli, Ioanna Karapiperis, Konstantinos Chatzoulis, Christos Alexiou, Evangelos Manafas, Achilles Tsangalas, Evangelos Karakoussis, Konstantinos Hematol Rep Case Report Hemoglobin (Hb) Agrinio is a rare non-deletional a-globin mutation observed almost exclusively in Greek, Spanish or other Mediterranean families. The clinical manifestations of a carrier of a single Hb Agrinio mutation (single heterozygosity) depend on the concomitant presence or absence of other mutations or variants in the beta, alpha or other modifying genes. We present a Greek patient harboring a Hb Agrinio variant plus the - -Med alpha deletional allele, having an infrequent severe form of alpha thalassemia, in contrast to the typical alpha thalassemic patient and requiring regular red blood cell (RBC) transfusions and chelation treatment. We also provide a concise literature review regarding alpha thalassemic hemoglobin variants and their molecular and clinical combinations. A phase 2, double-blind, randomized, placebo-controlled, multicenter clinical trial to determine the efficacy and safety of luspatercept (BMS-986346/ACE-536) for the treatment of anemia in adults with alpha thalassemia with the participation of our center is currently recruiting patients (NCT05664737). MDPI 2023-08-08 /pmc/articles/PMC10443284/ /pubmed/37606495 http://dx.doi.org/10.3390/hematolrep15030050 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Diamantidis, Michael D. Pitsava, Stefania Zayed, Omar Argyrakouli, Ioanna Karapiperis, Konstantinos Chatzoulis, Christos Alexiou, Evangelos Manafas, Achilles Tsangalas, Evangelos Karakoussis, Konstantinos Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review |
title | Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review |
title_full | Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review |
title_fullStr | Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review |
title_full_unstemmed | Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review |
title_short | Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review |
title_sort | concomitant presence of hb agrinio and - -med deletion in a greek male patient with hemoglobinopathy h: more severe phenotype and literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10443284/ https://www.ncbi.nlm.nih.gov/pubmed/37606495 http://dx.doi.org/10.3390/hematolrep15030050 |
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