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

doi:10.1002/ajh.2830380207

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Article

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

American journal of hematology - 1 Oct 1991

Waye J S, Chui D H, Eng B, Cai S P, Coleman M B, Adams J G, Steinberg M H

Abstract excerpt

We report a relatively mild phenotype associated with two siblings who are compound heterozygotes for Hb S and a beta zero-thalassemia mutation due to a approximately 1.4-kb deletion of the 5' region of the beta-globin gene. Each is found to have unusually high levels of Hb A2 and Hb F, accounting for more than 20% of the total hemoglobin. These may interfere with intracellular Hb S polymerization, thus leading...

Topics

Adult
Base Sequence
Chromosome Deletion
Chromosome Mapping
Female
Fetal Hemoglobin
Globins
Hemoglobin A
Hemoglobin, Sickle
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Immunoblotting

Molecular Sequence Data

Mutation

Phenotype

Polymerase Chain Reaction

Thalassemia

Source

Open in PubMed

Identifiers

PMID: 1719807
DOI: 10.1002/ajh.2830380207

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1719807-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Hb S/beta zero-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotype.PMID 1719807Read ↗

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