Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large Greek centers: a complex interplay between genotype and phenotype.

doi:10.1007/s00109-023-02342-3

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Article

Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large Greek centers: a complex interplay between genotype and phenotype.

Journal of molecular medicine (Berlin, Germany) - 1 Sept 2023

Diamantidis Michael D, Karanikola Rebecca-Anastasia, Polyzoudi Chrysoula, Delicou Sophia, Manafas Achilles, Savera Helen, Xydaki Aikaterini, Kotsiafti Angeliki, Tsangalas Evangelos, Ikonomou Georgia, Mani Eirini, Ntoulas Konstantinos, Alexiou Evangelos, Argyrakouli Ioanna, Koskinas John, Fotiou Paraskevi

Abstract excerpt

Hemoglobinopathies affect patients in the wider Mediterranean area consisting of 4 distinct subgroups: beta thalassemia major (TM), beta thalassemia intermedia (TI), sickle cell disease (SCD) and hemoglobin H disease (alpha thalassemia). The clinical spectrum varies from mild to severe. Complex interactions between genes and environmental factors form the clinical manifestations. There is an unmet need to clarify...

Read the complete abstract on PubMed

Topics

Humans
Clinical Relevance
Greece
Genotype

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Hemoglobinopathies

Phenotype

Mutation

beta-Thalassemia

alpha-Thalassemia

alpha-Globins

Disease Progression

Source

Open in PubMed

Identifiers

PMID: 37420139
DOI: 10.1007/s00109-023-02342-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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