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Case Reports
. 2007;31(2):135-9.
doi: 10.1080/03630260701285118.

Two new alpha-thalassemia frameshift mutations

Hong-Yuang Luo  1 , Adeboye H Adewoye, Monika Pilichowska, Michael Yunlong Li, Raveen K Basran, Martin H Steinberg, David H K Chui
Affiliations
Case Reports

Two new alpha-thalassemia frameshift mutations

Hong-Yuang Luo et al. Hemoglobin. 2007.

Abstract

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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