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 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...

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Detalhes bibliográficos
Principais autores: A Gürgey, H Balkan, G Irken, F Gümrük, S Altay, A Kalaycioğlu, C Oner, R Oner
Formato: Artigo
Idioma:English
Publicado em: Hacettepe University Institute of Child Health 1997-04-01
coleção:The Turkish Journal of Pediatrics
Acesso em linha:https://turkjpediatr.org/article/view/3395