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  4. Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review
 
research article

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
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August 8, 2023
Hematology Reports

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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Type
research article
DOI
10.3390/hematolrep15030050
Author(s)
Diamantidis, Michael D.

University Hospital of Larissa

Pitsava, Stefania

University Hospital of Larissa

Zayed, Omar

University Hospital of Larissa

Argyrakouli, Ioanna

University Hospital of Larissa

Karapiperis, Konstantinos  

General Hospital of Larisa, Greece

Chatzoulis, Christos

University Hospital of Larissa

Alexiou, Evangelos

University Hospital of Larissa

Manafas, Achilles

University Hospital of Larissa

Tsangalas, Evangelos

University Hospital of Larissa

Karakoussis, Konstantinos

University Hospital of Larissa

Date Issued

2023-08-08

Publisher

MDPI AG

Published in
Hematology Reports
Volume

15

Issue

3

Start page

483

End page

490

Subjects

Diamantidis, M.D.

•

Pitsava, S.

•

Zayed, O.

•

Argyrakouli, I.

•

Karapiperis, K.

•

Chatzoulis, C.

•

Alexiou, E.

•

Manafas, A.

•

Tsangalas, hemoglobinopathy H (HbH)

•

hemoglobin (Hb) agrinio

•

alpha thalassemia

•

severe clinical manifestations

•

chronic hemolysis

Editorial or Peer reviewed

REVIEWED

Written at

OTHER

EPFL units
Non-EPFL  
Available on Infoscience
November 11, 2025
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/255737
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