Identification of deletion and triple alpha-globin gene haplotypes in the Montreal beta-thalassemia screening program: implications for genetic medicine.

doi:10.1002/ajmg.1320360115

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Article

Identification of deletion and triple alpha-globin gene haplotypes in the Montreal beta-thalassemia screening program: implications for genetic medicine.

American journal of medical genetics - 1 May 1990

Akerman B R, Fujiwara T M, Lancaster G A, Morgan K, Scriver C R

Abstract excerpt

We obtained blood samples in a screening program designed to detect beta-thalassemia heterozygotes in Montreal; additional samples were obtained from referred persons. We analyzed DNA for variant numbers of alpha-globin genes, notably the alpha-thalassemia2 (-alpha/), alpha-thalassemia1, (- -/), and triplicated alpha-globin gene (alpha alpha alpha/) haplotypes using restriction enzymes and probes for alpha-globin...

Topics

Adolescent
Adult
Child
Child, Preschool
Chromosome Deletion
DNA
Erythrocyte Indices
Female
Genetic Carrier Screening
Genotype
Globins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Haplotypes

Hemoglobin A2

Humans

Infant

Male

Mass Screening

Middle Aged

Source

Open in PubMed

Identifiers

PMID: 2333910
DOI: 10.1002/ajmg.1320360115

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2333910-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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