Article

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

2022-10-10

Abstract excerpt

<title>Abstract</title> <p>Hemoglobinopathies affect patients in the wider Mediterranean area and consist of 4 distinct subgroups: beta thalassemia major (TM), beta thalassemia intermedia (TI), sickle cell disease syndromes (SCD) (homozygous SCD, SCD/beta thalassemia trait) and hemoglobinopathy H (alpha thalassemia). The clinical spectrum of these syndromes varies from mild to severe. Complex interactions between...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 39133a01-c1da-5065-ab8a-f8e74a55d1ec
DOI: 10.21203/rs.3.rs-2105734/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large greek centres: a complex interplay between genotype and phenotypeDOI 10.21203/rs.3.rs-2105734/v1Read

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.Semantic proximity Read

Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia.Semantic proximity Read

Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience.Semantic proximity Read

Molecular characterization of homozygous (high HbA2) beta-thalassemia intermedia in Greece.Semantic proximity Read

A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family.Semantic proximity Read

Co-Inheritance of α-thalassemia gene mutation in patients with sickle cell Disease: Impact on clinical and hematological variables.Semantic proximity Read

Alpha globin gene alterations modifying the phenotype of homozygous beta thalassaemiaSemantic proximity Read

[Beta thalassemia: molecular pathogenesis and clinical variability].Semantic proximity Read

Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country.Semantic proximity Read

A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.Semantic proximity Read

Clinical and genetic characteristics of hemoglobin H disease in Iran.Semantic proximity Read

Dissecting the role of genetic modifiers of hemoglobinopathies: A futuristic approach towards precision medicineSemantic proximity Read