The first case of Hb E-Saskatoon associated with Hb Lepore-Baltimore found in Spain.

Hb E-Saskatoon [beta22(B4)Glu-->Lys] does not cause any clinical symptoms in the heterozygous state. The homozygous state shows moderate phenotype expression. It has also been detected in association with beta-thalassemia.

Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain.

Hereditary hemochromatosis (HH) is an autosomal recessive disease caused by a defective iron absorption. C282Y is the most frequent HFE gene mutation causing HH in Northern European populations and their descendants. However, two other mutations, H63D and S65C, have been described as pathogenic changes.