[Diagnosis of hemoglobinopathies].

The chemical identification of variant hemoglobins was largely overtaken by DNA analysis during the last decade, despite remarkable improvement and automation of individual procedures in conventional chemistry. DNA diagnosis has proved more versatile, covering both variant hemoglobin and thalassemia mutations, less labor-demanding, and easier to learn. Protein chemistry is now reserved for some special problems such as post-translational modification (this problem would be covered much better by mass spectrometry), biosynthesis and stability, and pathologic physiology of selected abnormal hemoglobins. After introduction of DNA analysis during mid 1980's, the number of blood samples referred to our laboratory rapidly increased, mainly because of thalassemia traits in the differential diagnosis of microcytic anemia. Our experience during the past forty years and the present strategy for the rapid presumptive diagnosis of hemoglobinopathies and precise identification of mutations are briefly summarized.