News Release

Prenatal diagnosis could aid treatment of beta thalassaemia

NB. Please note that if you are outside North America, the embargo for LANCET press material is 0001 hours UK Time 4 July 2003.

Peer-Reviewed Publication

The Lancet_DELETED

Authors of a research letter in this week's issue of THE LANCET highlight how prenatal testing could identify fetuses with appropriate tissue for treating beta thalassaemia in their older siblings. Prenatal testing could also identify fetuses who will develop beta thalassaemia and who could be treated with bone-marrow transplantation from a family member.

Beta thalassaemia is a hereditary blood disorder characterised by impaired haemoglobin function. It effects thousands of people worldwide and is common in Mediterranean countries. 95% of young children can be effectively treated with bone-marrow transplantation from individuals with the same tissue type (called HLA).

Francesca Argiolu and colleagues from the University of Cagliari, Italy, did genetic testing to identify HLA status in fetuses of 49 couples at risk of having a baby with beta thalassaemia. Nine affected fetuses had a normal sibling, and 40 unaffected fetuses had an affected sibling. Two affected children were born and successfully received a transplantation from a family donor. Five unaffected fetuses were HLA compatible with an affected sibling; the umbilical cord blood was harvested for a future transplantation.

Francesca Argiolu comments: "We believe that prenatal HLA typing is a safe, ethical strategy that should be used more often, not only in beta thalassaemia but in all genetic diseases that can be cured by stem-cell transplantation and for which prenatal diagnosis is available."

In an accompanying Commentary (p 6), J Delhanty from University College London, UK, compares fetal HLA testing with pre-implantation genetic diagnosis. He concludes: "The ethical issues of the two different approaches have similarities; in both, the fetus or young child is used as a source of donated cells without being able to give consent. However, the likelihood of a successful outcome with preimplantation genetic diagnosis in cases that involve testing for two genetic loci is very low. Because of the complexity of the HLA genetic locus, the chance of finding an embryo that is both HLA compatible and free of b thalassaemia is about one in 12, and the chances that the embryo would then result in a live child in this particular case is about one in ten. Fetal HLA-typing would appear to be a better use of resources."

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Contact:

Dr Francesca Argiolu, University Degli Studi di Cagliari, Dipartimento di Scienze Biomediche e Biotecnologie, Centro TMO Ospedale per le Microcitemie, Cagliari, Italy; T) 39-070-609-5646 or 609-5512; F) 39-070-503696; E) fargiolu@mcweb.unica.it

Professor J D A Delhanty, Department of Obstetrics and Gynaecology, University College London, London WC1E 6HX, UK; T) 44-0-20-7679-6077; F) 44-0-20-7383-7429; E) j.delhanty@ucl.ac.uk


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