What question did this study set out to answer?

To describe the discovery and implications of a novel alpha globin variant, Hb Thessaloniki, in Northern Greece.

February 28, 2026Hematology ReportsOpen Access

Hb Thessaloniki, a Novel, Hyperunstable, Alpha Globin Variant Detected in Northern Greece

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This case presentation identifies a new alpha globin variant, Hb Thessaloniki, indicating minimal health impact in the family studied.

To describe the discovery and implications of a novel alpha globin variant, Hb Thessaloniki, in Northern Greece.
Detection of Hb Thessaloniki variant during population screening for haemoglobinopathies
Identification of point mutation in HBA1 gene
Assessment of haematological phenotype in proband and relatives
Use of Dynamut2 and Alphafold3 algorithms to predict structural impact
Hb Thessaloniki variant resulted from a mutation causing hyperunstability of the protein
Mild microcytosis and hypochromia were observed in the proband
The proband's partner showed a normal haematological phenotype, indicating low risk for affected offspring
Family analysis revealed biallelic variants in the mother with minor clinical findings

Boutou et al. (2026) studied this question.

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February 28, 2026Hematology ReportsOpen Access

View Full Paper

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Authors

This case presentation identifies a new alpha globin variant, Hb Thessaloniki, indicating minimal health impact in the family studied.

To describe the discovery and implications of a novel alpha globin variant, Hb Thessaloniki, in Northern Greece.
Detection of Hb Thessaloniki variant during population screening for haemoglobinopathies
Identification of point mutation in HBA1 gene
Assessment of haematological phenotype in proband and relatives
Use of Dynamut2 and Alphafold3 algorithms to predict structural impact
Hb Thessaloniki variant resulted from a mutation causing hyperunstability of the protein
Mild microcytosis and hypochromia were observed in the proband
The proband's partner showed a normal haematological phenotype, indicating low risk for affected offspring
Family analysis revealed biallelic variants in the mother with minor clinical findings

Boutou et al. (2026) studied this question.

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