Stepwise diagnostics of hemoglobinopathies

Abstract

Hemoglobinopathies belong to the most common monogenic hereditary diseases worldwide. A particularly high prevalence is seen in the Mediterranean countries, in parts of Asia, the Middle East and West Africa. Nevertheless, due to migration hemoglobinopathies play an increasingly important role in Germany as well. Basic testing consists of blood count and hemoglobin differentiation. In addition, an iron deficiency should be excluded if necessary. Molecular genetic testing is used for the verification of hematologic findings and serves in the assessment of risk for a severe form of a hemoglobinopathy in offspring. In order to ensure efficient diagnostics, family history and previous findings of the patient should be communicated to the laboratory. This is especially crucial in the case of prenatal diagnostics.