Article
Homozygosity for nondeletion delta-beta(0) thalassemia resulting in a silent clinical phenotype.
Blood - 1 Sept 2002
Galanello Renzo, Barella Susanna, Satta Stefania, Maccioni Liliana, Pintor Carlo, Cao Antonio
Abstract excerpt
The clinical phenotype of homozygous beta thalassemia varies in severity from the mild thalassemia intermedia to the severe thalassemia major. This variability depends largely on the molecular heterogeneity of beta thalassemia defects. We report the first case of a homozygous state for nondeletion Sardinian delta-beta(0) thalassemia, which resulted in a symptomless clinical phenotype with a peculiar hemoglobin...
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