Prenatal diagnosis of unusual hemoglobinopathies.

doi:10.1002/ajmg.1320500104

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Article

Prenatal diagnosis of unusual hemoglobinopathies.

American journal of medical genetics - 1 Mar 1994

Kim J H, Lebo R V, Cai S P, Su X, Chung J H, Mentzer W C, Golbus M S

Abstract excerpt

While analyzing 280 hemoglobinopathy kindreds with prescribed molecular tests, 3 unusual mutations were observed that required additional characterization. In the first case, the hypervariable region flanking the alpha-globin genes generated an intermediate length 8.2 kb psi zeta-globin gene frag...

Topics

Anemia, Sickle Cell
Base Sequence
Chorionic Villi Sampling
DNA Mutational Analysis
DNA Primers
Female
Fetal Diseases
Frameshift Mutation
Gene Deletion
Haplotypes
Hemoglobinopathies
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Oligonucleotide Probes

Pedigree

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 8160747
DOI: 10.1002/ajmg.1320500104

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8160747-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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