Delta + 27 homozygosis in a Sicilian family.
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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Servizio Terapia e Prevenzione Talassemia, Ospedale V. Cervello, Palermo, Italy.
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D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000209:etiology*; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000235:genetics*
D005914:Globins