Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia.

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Article

Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia.

Blood - 15 Nov 1990

Trent R J, Williams B G, Kearney A, Wilkinson T, Harris P C

Abstract excerpt

The DNA deletion associated with an example of (epsilon gamma delta beta)zero thalassemia (Scottish-Irish type) was characterized. The deletion is approximately 205 kb in length and involves the epsilon, G gamma, A gamma, delta, and beta globin genes. The breakpoint is located 263 bp 3' to exon 3 of the beta globin gene. An LI (KpnI) repeat element approximately 320 bp in size is found at the 3' end of the novel...

Topics

Adolescent
Adult
Age Factors
Aged
Base Sequence
Blood Cell Count
Child
Child, Preschool
Chromosome Deletion
Chromosome Mapping
DNA
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Globins

Humans

Infant

Infant, Newborn

Ireland

Male

Source

Open in PubMed

Identifiers

PMID: 2242432

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2242432-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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