Identification of a novel β<sup>0</sup> ‐ thalassaemia mutation in a greek family and subsequent prenatal diagnosis

AbstractWe present a case in which a Greek couple was considered not to be at risk of having children with homozygous β‐thalassaemia, an assessment based largely on the father's belief that he carried α‐thalassaemia. After their first child was diagnosed with homozygous β‐thalassaemia, the case was re‐assessed and both parents were shown to have the haematological profile of β‐thalassaemia trait. Screening for the common Mediterranean mutations demonstrated that the mother carries the IVS‐1 nt 110 G→A β+ ‐thalassaemia mutation. Direct nucleotide sequencing of PCR‐amplified DNA revealed that the father carries a novel β0‐thalassaemia mutation, frameshift codons 9/10 (+T). The couple's second pregnancy was terminated after prenatal testing revealed that the fetus had inherited both parental mutations. This case illustrates the need to confirm the carrier status of individuals prior to assessing their genetic risks, and highlights the importance of being able to identify rare or novel β‐thalassaemia mutations.

Identification of a novel β⁰ ‐ thalassaemia mutation in a greek family and subsequent prenatal diagnosis Journal Articles