An Alpha-Thalassemia Case in Estonia
Marika Pikta1, Galina Zemtsovskaja1,*, Iige Viigimaa2, Jelena Jerjomina1
1Laboratory, North Estonia Medical Centre, 2Hematology, North Estonia Medical Centre, Tallinn, Estonia
Introduction: Alpha-thalassemia traits are particularly frequent in the Mediterranean countries, in the Middle East, in West and North Africa as well as in India and other Asian countries. Multi-ethic migrations, however, are now affecting the epidemiology of hemoglobinopathies. Screening for hemoglobin disorders has become a necessity in non-endemic countries.
Objectives: A patient diagnosed as having chronic iron deficiency anaemia and treated with permanent Fe supplement therapy was referred by a general practitioner to a hematologist at the North Estonia Medical Centre. The patient is ethnically of Hindu origin (born to a Hindu family living in South America for three generations) and has been residing in Estonia for four years.
Methods: RBC parameters were provided by the Sysmex-XE 5000, iron status studies, such as serum ferritin, serum transferrin, transferrin saturation, (Cobas-6000-c501) were done. A hemoglobin electrophoresis test was performed on the MiniCap capillary electrophoresis system (manufactured by Sebia, France).
Results: Based on hematological studies, a microcytic hypochromyc anaemia was diagnosed (MCV-72,7 fL, MCH-23,9 pg) with tests showing normal iron status and low HbA2 level (2,3%). A molecular genetic test for alpha thalassemia, performed on the patient’s blood sample at Centogene laboratory (Germany), detected a homozygous deletion in one HbA gene with the other HbA gene unchanged (-a/-a), thus pointing to alpha thalassemia trait. A prerequisite for indicating iron therapy is that iron deficiency must have been established by laboratory testing. In the above case iron deficiency was ruled out by a haematologist at the hospital.
Conclusion: Considering the importance of hemoglobinopathy screening for future therapeutic intervention, we have been starting such screening in Estonia by applying our existing capillary electrophoresis system.