Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic epidemiology of beta-thalassemia in Sicily: do sequences 5' to the G gamma gene and 5' to the beta gene interact to enhance HbF expression in beta-thalassemia?

American journal of hematology - 1 Jul 1992

Ragusa A, Lombardo M, Beldjord C, Ruberto C, Lombardo T, Elion J, Nagel R L, Krishnamoorthy R

Abstract excerpt

The present epidemiological study of the molecular characteristics of beta-thalassemia in Sicily was prompted by the disparate phenotypic expression (in clinical status and absolute HbF level) observed in two beta-thalassemic homozygotes who were also homozygous for the beta-like globin gene cluster haplotype III. We suspected that polymorphisms within haplotype III could be the cause for the discrepancy. Based...

Topics

Adolescent
Adult
Base Sequence
Child
Child, Preschool
Female
Fetal Hemoglobin
Genes
Haplotypes
Humans
Italy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Molecular Sequence Data

Mutation

Thalassemia

Source

Identifiers

PMID: 1376963
DOI: 10.1002/ajh.2830400308

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1376963-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic epidemiology of beta-thalassemia in Sicily: do sequences 5' to the G gamma gene and 5' to the beta gene interact to enhance HbF expression in beta-thalassemia?PMID 1376963Read ↗

Role of polymorphic sequences 5' to the G(gamma) gene and 5' to the beta gene on the homozygous beta thalassemic phenotype.Semantic proximity Read ↗

Genetic heterogeneity of beta-thalassemia in southeast Sicily.Semantic proximity Read ↗

Effect of a group of genetic markers around the 5' regulatory regions of the β globin gene cluster linked to high HbF on the clinical severity of β thalassemia.Semantic proximity Read ↗

Observation of the codon 27 (GCC-->TCC) delta-thalassemia allele in cis to the IVS-I-6 (T-->C) beta-thalassemia allele in a family from West Sicily.Semantic proximity Read ↗

Molecular basis of alpha-thalassemia in Sicily.Semantic proximity Read ↗

Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with beta-thalassaemia due to a homozygosity for the IVS-I-6 (T-->C) mutation.Semantic proximity Read ↗

Clinical, hematological, and molecular features in Sicilians with Hb S-beta-thalassemia.Semantic proximity Read ↗

Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G-->A mutation: role of the beta-globin gene haplotype.Semantic proximity Read ↗

The effect of the beta thalassemia mutation on the clinical severity of the sickle beta thalassemia syndrome.Semantic proximity Read ↗

Combined effect of two different polymorphic sequences within the beta globin gene cluster on the level of HbF.Semantic proximity Read ↗

Two beta-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin.Semantic proximity Read ↗

The genetic heterogeneity of β-globin gene defects in Sicily reflects the historic population migrations of the island.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.