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

THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele.

Hemoglobin - 1 Jan 2008

Schmugge Markus, Waye John S, Basran Raveen K, Zurbriggen Karin, Frischknecht Hannes

Abstract excerpt

We report a family in which two siblings are compound heterozygotes for Hb S [beta6(A3)GluVal] and a rare beta-globin mutation [IVS-I (-2) (A>C)]. Both patients had significant levels of Hb A, indicating that the IVS-I (-2) mutation is a relatively mild beta(+)-thalassemia (beta(+)-thal) allele. This mutation, in compound heterozygosity with Hb S, does not necessarily lead to a mild clinical course.

Topics

Adult
Alleles
Female
Hemoglobin, Sickle
Heterozygote
Humans
Male
Point Mutation
RNA Splice Sites
Siblings
beta-Thalassemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 18473247
DOI: 10.1080/03630260802004459

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 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

THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele.PMID 18473247Read ↗

Hb S/beta zero-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotype.Semantic proximity Read ↗

Concomitant inheritance of homozygous alpha-thalassemia-2 with homozygous IVS-I-5 G-C beta gene mutation does not influence the severity of the thalassemic phenotype.Semantic proximity Read ↗

Severe Hb S-beta+ thalassemia caused by IVS-I splice site mutations.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 ↗

Compound heterozygosity for Hb S [beta6(A3)GluVal, GAG-->GTG] and a new thalassemic mutation [beta132(H10)Lys-->term, AAA-->TAA] detected in a family from West Africa.Semantic proximity Read ↗

Compound heterozygosity for a mild beta (+) and a rare beta(0)-thalassemia allele.Semantic proximity Read ↗

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia.Semantic proximity Read ↗

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

A mild type of Hb S-beta(+)-thalassemia [-92(C-->T)] in a Sicilian family.Semantic proximity Read ↗

A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: phenotype and molecular characteristics.Semantic proximity Read ↗

IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/β+-Thalassemia Phenotype in an Hb S Trait Patient.Semantic proximity Read ↗

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

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