| Autor: |
A, Gürgey, H, Balkan, G, Irken, F, Gümrük, S, Altay, A, Kalaycioğlu, C, Oner, R, Oner |
| Rok vydání: |
1997 |
| Předmět: |
|
| Zdroj: |
The Turkish journal of pediatrics. 39(2) |
| ISSN: |
0041-4301 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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