Summary
Hemoglobinopathies are one of the largest group of genetic diseases in the world. Main causes of these diseases are changes in globin molecule structure. It ranges from one amino acid change to disappearance of the whole globin chain. There are more than 1000 known variant hemoglobins in the world today. Most of disease manifestations are of limited clinical significance; however, some of them, like sickle cell anemia or thalassemia, are widely spread and could produce severe hemolytic anemia. It manifests as chronic ischemia of internal organs caused by occlusion of small arteries. Treatment of these diseases is complex and challenging, requiring numerous blood transfusions which lead to iron overload and eventual liver failure. Early and reliable diagnosis is essential in determining effective care of the patients now and in the future. As these diseases are inherited by autosomal recessive manner, diagnosis is also important to determine heterozygous carriers as a part of familial genetic counseling routine. We review and discuss pros and cons of current diagnostic methods for determining these diseases. Main automated diagnostic methods include high performance liquid chromatography (HPLC) and capillary electrophoresis. Due to high resolution and good price/quality ratio these methods replaced former method of choice -paper electrophoresis. Mass spectrometry and DNA sequencing methods are not yet employed routinely, however, they might become routine in the future. Currently they are of utmost significance in research laboratories detecting new forms of hemoglobinopathies and managing more complex cases of diseases.
Keywords: hemolytic disease, arterial occlusion, hemoglobinopathy, laboratory diagnostics.
