Blood Journal
Leading the way in experimental and clinical research in hematology

Prenatal diagnosis of pyruvate kinase deficiency

  1. L Baronciani and
  2. E Beutler
  1. Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA 92037.


Prenatal testing for pyruvate kinase deficiency is often requested by parents who already have an affected child. However, before the development of molecular biologic techniques there were no suitable diagnostic methods. We present here two cases in which the diagnosis was established, one using amniotic fluid cells, the other cord blood. Two different approaches were used. The first, using a direct method of PCR amplification and restriction endonuclease analysis, detected mutations in fetus genomic DNA. The second method, using two polymorphic sites linked to the PKRL gene, enabled us to establish which chromosome had been inherited from each parent.