Case Reports
Delta + 27 homozygosis in a Sicilian family
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- PMID:1398286
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Case Reports
Delta + 27 homozygosis in a Sicilian family
M Renda et al. Haematologica.1992 Jan-Feb.
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Abstract
During a screening program to identify at risk couples for beta-thalassemia first-trimester prenatal diagnosis, we were able to detect, by polymerase chain reaction (PCR) and direct genomic sequencing of the PCR product, a homozygosis for the G-T substitution at the first nucleotide of codon 27 of the delta-globin gene in a pregnant Sicilian woman. The possibility of showing an interaction between delta and beta thalassemia is relevant for a thalassemia prevention program because it may hide a beta-thal carrier state.
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