[Hemoglobinopathies and erythrocyte enzyme deficiencies in Switzerland: laboratory diagnoses of the last 10 years].
In 26,224 blood samples sent to the laboratory in the last 10 years, abnormal haemoglobins were present in 565 samples and 5579 cases of thalassaemia have been diagnosed. With routine testing a red cell enzyme deficiency was found in 722 samples. Laboratory tests for delta beta-thalassaemia, alpha-thalassaemia and glucose-6-phosphate dehydrogenase deficiency had been requested only for a minority of the detected cases. It is obvious that many physicians are not familiar with these disorders.
D004912:Erythrocytes / Q000201:enzymology*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis* / Q000453:epidemiology; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D013557:Switzerland; D013789:Thalassemia / Q000175:diagnosis
D006455:Hemoglobins, Abnormal
Hämoglobinopathien und Erythrozyten-Enzymopathien in der Schweiz: Laboratoriumsdiagnosen der letzten 10 Jahre.