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Three new alpha-thalassemia point mutations ascertained through newborn screening.

Hemoglobin - 1 Jan 2006

Eng Barry, Patterson Margie, Walker Lynda, Hoppe Carolyn, Azimi Mahin, Lee Helen, Giordano Piero C, Waye John S

Abstract excerpt

We report three new alpha-thalassemia (thal) point mutations detected during newborn screening for hemoglobinopathies. The first mutation is a single nucleotide deletion (-A) that abolishes the translation initiation codon of the alpha2-globin gene, detected in a newborn of Hmong ethnicity who carried the Southeast Asian alpha(0)-thal deletion (alpha(T)alpha/- -(SEA)). The second mutation, a frameshift caused by...

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Source

Identifiers

PMID: 16798638
DOI: 10.1080/03630260600642021

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SEA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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