Hemoglobinopathies: a longitudinal study over four decades.

Background: Hemoglobinopathies are among the most common hereditary diseases worldwide, with high prevalence in the Mediterranean basin, Africa, and Asia. Although they are rare in the indigenous central European population, they have become much more common in Germany recently through the immigration of millions of people from endemic regions.

Methods: In a long-term study (1971-2007), 100,621 hemoglobin analyses were performed and retrospectively evaluated.

[Ocular findings in Desferal therapy].

Desferrioxamine (DFO) is the most important drug in the treatment of thalassemia major and other hematological diseases requiring regular transfusion. It eliminates excessive ferritin by building up chelate complexes. Different mechanisms of possible DFO toxicity are induction of oxidation, damage of the blood-retina barrier, or reduction in other metalloions (Cu2+, Zn2+).

Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia.

The relative excess of alpha- over beta-globin chains in the erythroid precursors is the chief pathophysiological factor of homozygous beta-thalassemia. The clinical picture is usually characterized by a transfusion-dependent dyserythropoietic anemia (thalassemia major). However, some patients present with moderate anemia that does not require regular blood transfusions (thalassemia intermedia).

The spectrum of CFTR mutations in south-west German cystic fibrosis patients.

The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 110 cystic fibrosis (CF) patients from the south-west of Germany was screened for 12 different mutations. This analysis resulted in an identification of 79% of all CF mutations and a complete genotype in 66% of the families. The most common mutation found was delta F508 (67%).