| Autor: |
Kattamis, C., Metaxotou-Mavromati, A., Ladis, V., Tsiarta, H., Laskari, S., Kanavakis, E. |
| Zdroj: |
European Journal of Pediatrics; 1982, Vol. 139 Issue 2, p135-138, 4p |
| Abstrakt: |
Based on precise evaluation of hematological findings and clinical manifestations, the relationship between genotype and clinical phenotype was studied in 475 Greek patients with β and δβ thalassemias. Almost all known genotypes are included in this series, but the most frequent was homozygous β high A (71.6%), β/β silent (7.4%), β/δβ high F (6.3%) and β/β Dutch (6.3%). In general, the phenotype was related to the genotype, though clinical heterogeneity was detected among patients with the same genotype. The severe type of thalassemia major was most commonly found in homozygous β patients mainly of β/β and β/β genotypes while homozygous β patients had milder clinical manifestation. Furthermore a small group of patients, characterized as homozygous β (HbF<30%) had mild thalassemia intermedia. In addition mild thalassemia intermedia was principally related with homozygous δβ, and compound heterozygous β/β silent I, and less frequently with other genotypes such as compound heterozygous with β/β Dutch, β/β silent II, β/δβ high F or Lepore. It was shown that precise genetic characterization and clinical evaluation is of primary importance in predicting the prognosis and formulating the proper treatment for the individual patient with thalassemia. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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