The clinical phenotype of ? and ?? thalassemias in Greece

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Abstract
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 βth high A2 (71.6%), βth/βth silent (7.4%), βth/δβoth high F (6.3%) and βth/βth 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 βth patients mainly of βo/βo and βo/β+ genotypes while homozygous β+ patients had milder clinical manifestation. Furthermore a small group of patients, characterized as homozygous β++ (HbFoth, and compound heterozygous βth/βth silent I, and less frequently with other genotypes such as compound heterozygous with βth/βth Dutch, βth/βth silent II, βth/δβth 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.