Abstract
We describe a patient originating from Ghana who had combined heterozygous alpha (4.2)thalassemia, alpha alpha alpha anti3.7 triplication, the common delta globin variant HbA2' and a new 65 bp duplication/insertion in exon II of the b globin gene causing beta (0)-thalassemia.
Publication types
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Case Reports
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Letter
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Review
MeSH terms
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Adult
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Amino Acid Sequence
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Codon / genetics
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Codon, Terminator
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Exons / genetics
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Gene Duplication*
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Genotype
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Ghana / ethnology
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Globins / chemistry
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Globins / genetics*
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Hemoglobins / analysis
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Hemoglobins / genetics
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Humans
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Male
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Molecular Sequence Data
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Mutagenesis, Insertional*
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Mutant Proteins / chemistry
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Mutant Proteins / genetics*
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alpha-Thalassemia / blood
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alpha-Thalassemia / genetics*
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beta-Thalassemia / blood
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beta-Thalassemia / genetics*
Substances
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Codon
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Codon, Terminator
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Hemoglobins
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Mutant Proteins
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Globins