IDENTIFICATION OF A NOVEL BETA(0)-THALASSEMIA MUTATION IN A GREEK FAMILY AND SUBSEQUENT PRENATAL-DIAGNOSIS

We present a case in which a Greek couple was considered not to be at risk of having children with homozygous beta-thalassaemia, an assessme nt based largely on the father's belief that he carried alpha-thalassa emia. After their first child was diagnosed with homozygous beta-thala ssaemia, the case was re-assessed and both parents were shown to have the haematological profile of beta-thalassaemia trait. Screening for t he common Mediterranean mutations demonstrated that the mother carries the IVS-1 nt 110 G-->A beta(+)-thalassaemia mutation. Direct nucleoti de sequencing of PCR-amplified DNA revealed that the father carries a novel beta(0)-thalassaemia mutation, frameshift codons 9/10 (+T). The couple's second pregnancy was terminated after prenatal testing reveal ed that the fetus had inherited both parental mutations. This case ill ustrates the need to confirm the carrier status of individuals prior t o assessing their genetic risks, and highlights the importance of bein g able to identify rare or novel beta-thalassaemia mutations.