Abstract
We report a novel α-globin gene point mutation detected during newborn screening for hemoglobinopathies. Sequence analyses identified a GTG>GCG substitution at codon 62 of the α1-globin gene. This mutation causes a silent α-thalassemia (α-thal).
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Base Sequence
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China
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Codon / genetics*
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DNA Mutational Analysis
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Electrophoresis, Capillary
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Humans
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Infant, Newborn
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Male
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Mutation, Missense*
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alpha-Globins / genetics*
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alpha-Thalassemia / diagnosis
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alpha-Thalassemia / genetics*