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Article

A greater than 200 kb deletion removing the entire beta-like globin gene cluster in a family of Irish descent.

Hemoglobin - 1 Jan 1991

Fortina P, Delgrosso K, Werner E, Haines K, Rappaport E, Schwartz E, Surrey S

Abstract excerpt

We describe a new deletional form of gamma delta beta-thalassemia segregating in two generations of a family of Irish descent. Affected family members present with a beta-thalassemia minor phenotype, normal Hb A2 and Hb F levels. Genomic blotting analyses on DNA from affected family members show heterozygosity for a large deletion beginning at least 15 kb upstream of the 5' endpoint of the gamma delta...

Topics

Adult
Chromosome Deletion
Chromosomes, Human, Pair 11
DNA Probes
Female
Fetal Hemoglobin
Globins
Hemoglobin A2
Humans
Infant, Newborn
Ireland
Jaundice, Neonatal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Phenotype

Polymorphism, Restriction Fragment Length

Thalassemia

Source

Identifiers

PMID: 1717405
DOI: 10.3109/03630269109072482

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1717405-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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