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Your search keyword '"Greiner, Jeanette"' showing total 2 results
Start Over Author "Greiner, Jeanette" Journal hemoglobin
2 results on '"Greiner, Jeanette"'

2. Compound Heterozygosity for Hb S [β6(A3)Glu→Val, GAG→GTG] and a New Thalassemic Mutation [β132(H10)Lys→Term, AAA→TAA] Detected in a Family from West Africa.

Author

Frischknecht, Hannes, Troxler, Heinz, Greiner, Jeanette, Hengartner, Heinz, and Dutly, Fabrizio

Subjects
THALASSEMIA, GENETIC mutation, GLOBIN genes, EXONS (Genetics), GENETICS
Abstract

We describe a Hb S/β-thalassemia (β-thal) mutation involving an A→T transition at codon 132 of the β-globin gene. The mutation, in the heterozygous state, unlike several other mutations in exon 3, shows no signs of dominant thalassemia but those of a typical β0 carrier. Compound heterozygosity with Hb S [β6(A3)Glu→Val, GAG→GTG] showed a severe clinical picture. [ABSTRACT FROM AUTHOR]

Published
2008
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