COMPOUND HETEROZYGOSITY FOR HEMOGLOBIN KNOSSOS [ALPHA(2)BETA(2)-27-(B9)-ALA-SER] AND IVS I-1 MUTATION

A three-year-old female with compound heterozygosity for Hb Knossos an d IVS-I-1 mutation is presented. On physical examination she had no ab normality except far pallor. Hb was 6.9 g/dl, MCV 61 fl, Hb A2 2% and Hb F 38.5%. Acrylamidegel electrophoresis at a pH of 6 revealed the pr esence of Hb Knossos in the child and her father. DNA studies revealed that the child was compound heterozygous for Hb Knossos and the IVS I -1 mutation. When the clinical expression of this combination in a pre viously reported patient with Hb Knossos/FSC8 mutation is compared, it is shown that the newly presented patient has a more severe condition , indicating that the mutations in the trans of Uh Knossos may play a role in the phenotypical expression of the disease.