Compound heterozygosity for hemoglobin knossos [alpha(2)beta(2) 27 (B9) Ala-Ser] and IVS I-1 mutation

Gurgey A., Balkan H., Irken G., Gumruk F., Altay S., Kalaycioglu A., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.39, sa.2, ss.253-257, 1997 (SCI-Expanded) 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: Hb Knossos, beta-thalassemia, mutation, abnormal hemoglobin, SILENT BETA-THALASSEMIA, INTERMEDIA, GENE
  • Hacettepe 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 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 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 Uh Knossos may play a role in the phenotypical expression of the disease.