Nietypowy obraz hemoglobinopatii współistniejącej z talasemią β

Abstract

Introduction. Inherited hemoglobin disorders, including thalassemia and hemoglobinopathies, are frequently occurring diseases in the world. Thalassemias are autosomal recessive disorders of hemoglobin synthesis. Underlying molecular defects in the α-globin or β-globin gene clusters form the basis of defective hemoglobin synthesis and the various inherited forms of α- halasemias or β-thalasemias. Thalassemia is diagnosted where hemoglobin levels, volume of red blood cells (MCV) and mean cellular hemoglobin (MCH) are significantly reduced. Aim. We want to introduce atypical clinical falieure of hemoglobinopathy. Material and methods. We presented two children with anemia. In first case it was a boy with normal MCV and reduced MCH, next case it was a girl after splenectomy with increased MCV and MCH. In both cases the red cells were hypochromic and also target cells were present in peripheral blood smear. Hemoglobin electrophoresis, measurement of HbA2 and HbF levels were performed. Results. Test results were characteristic for thalasemia β. Extending the diagnostic panel with genetic tests helped to identify in both of children thalassemia α silience carrier (-α/αα). In first case unstabile hemoglobin Hb Köln (Codon 98(295G > A)) was also detected and in second unstabile hemoglobin Hb Bruxelles (deletions del 42/β+). Conclusion. Only the genetic tests made it possible to explain atypical blood smear for thalassemia.