Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype.
AUTOR(ES)
Furbetta, M
RESUMO
Antenatal diagnosis was carried out in a pregnancy at risk for beta-thalassaemia major/intermedia, resulting from the Lepore/ beta-thalassaemia genotype, by globin chain synthesis analysis on fetal blood obtained by placentocentesis at 19 weeks' gestation. As there was no radioactive incorporation in the beta-region, the fetus was considered to be a Lepore/ beta-thalassaemia genetic compound and aborted on parental request. After abortion, cord blood analysis confirmed the absence of beta-chain radioactivity.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1048800Documentos Relacionados
- Serum immunoreactive trypsin in beta-thalassaemia major.
- Prenatal diagnosis of beta-thalassaemia by fetal red cell concentration with anti-AB serum.
- delta beta-Thalassaemia in Sicily: report of a case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia.
- Beta-Thalassaemia types in southern Sardinia.
- Frequency of coincident iron deficiency and beta-thalassaemia trait.