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Compound heterozygosity for hemoglobin Knossos Ala - Ser and IVS I - 1 mutation

Compound heterozygosity for hemoglobin Knossos Ala - Ser and IVS I - 1 mutation

Turkish Journal of Pediatrics 39(2): 253-256

A three-year-old female with compound heterozygosity for Hb Knossos and IVS-I-1 mutation is presented. On physical examination she had no abnormality except for 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 presence 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 previously 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 Hb Knossos may play a role in the phenotypical expression of the disease.

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