Compound heterozygosity for hemoglobin knossos [α 2β 2 27 (B9) Ala-Ser] and IVS I-1 MUTATION

Gürgey A., Balkan H., Irken G., GÜMRÜK F., Allay S., Kalaycioǧlu A., ...Daha Fazla

Turkish Journal of Pediatrics, cilt.39, sa.2, ss.253-257, 1997 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Sayı: 2
  • Basım Tarihi: 1997
  • Dergi Adı: Turkish Journal of Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.253-257
  • Anahtar Kelimeler: β-thalassemia, Abnormal hemoglobin, Hb Knossos, Mutation
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.