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Article

Two new alpha-thalassemia frameshift mutations.

Hemoglobin - 1 Jan 2007

Luo Hong-Yuang, Adewoye Adeboye H, Pilichowska Monika, Li Michael Yunlong, Basran Raveen K, Steinberg Martin H, Chui David H K

Abstract excerpt

alpha-Thalassemia (thal) is common all over the world. Most of the mutations encountered are of the deletional type. We now report two frameshift alpha-thal mutations: a novel alpha1-globin gene deletion at codon 62 (GTG -->-TG) found in an African American man, and a second report on an alpha2-globin gene deletion at codon 22 (GGC-->GG -) found in a Hispanic girl.

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Source

Identifiers

PMID: 17486494
DOI: 10.1080/03630260701285118

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Two new alpha-thalassemia frameshift mutations.PMID 17486494Read ↗

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A novel α-thalassemia frameshift mutation: codon 8 (-C).Semantic proximity Read ↗

α(+)-Thalassemia trait caused by a frameshift mutation in exon 2 of the α2-globin gene [HBA2 c.244delT].Semantic proximity Read ↗

Nondeletional α-Thalassemia: Two New Mutations on the α2 Gene.Semantic proximity Read ↗

A new Frameshift mutation on the α2-globin gene causing α⁺-thalassemia: codon 43 (TTC>-TC or TTC>T-C).Semantic proximity Read ↗

Three new beta-thalassemia mutations with varying degrees of severity.Semantic proximity Read ↗

Coinheritance of a novel mutation on the HBA1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T].Semantic proximity Read ↗

Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C).Semantic proximity Read ↗

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α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].Semantic proximity Read ↗

A frameshift at codons 77/78 (-C): a novel beta-thalassemia mutation.Semantic proximity Read ↗

Nondeletional α-thalassemia (α2- IVS-1-116, A>G HBA2): an α2 gene point mutation detected in an African-American female for the first time.Semantic proximity Read ↗

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