Phenotype-genotype correlation in Sicilian patients with Hb H.

Abstract excerpt

We studied 15 Sicilian subjects with Hb H disease correlating clinical examinations with hematological and molecular data. Seven different alpha-tha1 mutations were identified: four deletion types (--MED --CAL, -alpha3.7, -alpha4.2) and three nondeletion types (alpha(Ncol)alpha, alpha(Hph)alpha, alphaCSalpha). All the patients had a zero-gene chromosome (--MED or --CAL), while the third alpha gene was deleted...

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• DNA Mutational Analysis
• Family Health
• Female
• Gene Deletion
• Genotype
• Globins