A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.

doi:10.1080/03630269.2020.1783288

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Article

A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.

Hemoglobin - 1 May 2020

Khalil Mohamed S M, Timbs Adele T, Henderson Shirley J, Schuh Anna, El-Khawanky Mohamed M, Old John M

Abstract excerpt

Over many years, cases of suspected α-globin chain variants were collected from different parts of the UK. The suspicion was based on the clinical picture, high performance liquid chromatography (HPLC) variant percentage, retention time (RT) and isoelectric focusing (IEF). DNA sequencing and the restriction enzyme EaeI were used for definitive diagnosis. One hundred and forty-eight variants were confirmed on one...

Topics

Alleles
Codon
Erythrocyte Indices
Exons
Gene Frequency
Genetic Variation
Genotype
Hemoglobinopathies
Humans
Mutation
Population Surveillance
United Kingdom
alpha-Globins
alpha-Thalassemia

Source

Open in PubMed

Identifiers

PMID: 32597250
DOI: 10.1080/03630269.2020.1783288

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