Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia

Using direct sequencing we analysed the pyruvate kinase (PK) LR gene of a p atient with severe haemolytic anaemia due to PK deficiency A novel promoter mutation -249delA relative to the translation initiation site and the comm on 1529A mutation in exon 11 of the gene could be identified. Reverse trans cription (RT)-PCR analysis combined with restriction digestion revealed tha t the -249delA mutation leads to a reduction in the amount of mRNA produced from this allele to about 6% of normal. We assume that both mutations woul d account for the PK deficiency in the compound heterozygous patient.