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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...

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Autores principales: Diamantidis, Michael D., Pitsava, Stefania, Zayed, Omar, Argyrakouli, Ioanna, Karapiperis, Konstantinos, Chatzoulis, Christos, Alexiou, Evangelos, Manafas, Achilles, Tsangalas, Evangelos, Karakoussis, Konstantinos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 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).
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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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