Clinical observations of beta-thalassemia minor long misdiagnosed as iron deficiency anemia

Abstract

   Introduction. Over the past decades, rapidly changing demographic patterns have made thalassemia a relevant clinical issue in regions where this disease was previously uncommon.

   Aim. To present clinical cases of the rare for Russia condition, beta-thalassemia minor.

   Materials and methods. Two clinical observations of beta-thalassemia minor that had long been masked as iron deficiency anemia are described in patients who self-identify as ethnically Russian.

   Results. Both cases featured mild hypochromic, microcytic anemia. The anemia was initially misclassified as iron deficiency, leading to unwarranted iron therapy and subsequent iron overload. Detection of elevated ferritin levels ruled out true iron deficiency. Hemoglobin electrophoresis and molecular genetic testing subsequently confirmed beta-thalassemia
minor. When these examinations were extended to relatives, several family members were found to carry the same diagnosis.

   Conclusion. Although uncommon, thalassemia can occur in the Russian population owing to intensive migration and the influx of mutations. Beta-thalassemia minor is indistinguishable from iron deficiency anemia on routine complete blood count alone. Fractional hemoglobin analysis is a preliminary diagnostic tool for beta-thalassemia, while definitive confirmation and genotypic clarification require molecular genetic testing of the HBB gene. Timely identification of carriers can prevent diagnostic errors, avoid unnecessary drug therapy, and reduce the risk of complications.