A Patient of German Descent with (δβ)°-Thalassemia Carrying the Sicilian type Deletion of the δ and β Globin Genes

Abstract

A deletion-type (δβ)°-thalassemia with elevated production of fetal hemoglobin (Hb F) is described. The patient, homozygous for the disease, presented a clinical picture of β-thalassemia intermedia. DNA analysis demonstrated that the deletion removed about 13 kb from the β-globin cluster, including part of δ and the complete β gene. The deletion appears to be identical to the previously described Sicilian deletion. Its presence in the homozygous state in a patient from Central Europe suggests that the deleted chromosome may be rather prevalent in that area.