Anemia in hemoglobin E traits resistant to treatment: report of two cases

Abstract

Introduction: The hemoglobin E traits are always asymptomatic; they mostly have normal hemoglobin concentration and normal MCV. Their hemoglobin analysis usually reveals only Hb A and E. But herein we reported two cases of supposed Hb E traits that had moderate microcytic anemia which could not be simply corrected. Case Presentation: Case 1. A 40-year-old Thai woman had moderate microcytic anemia without hepatosplenomegaly. Her blood tests showed: Hb 9.1 g%, MCV 52.3 fl, MCH 16.3 pg, ferritin 444.3 ng/ml, Hb analysis using the high performance liquid chromatography method: Hb AE, Hb E 15.2 %, Hb F 1.2 %. Case 2. A 36-year-old Thai woman had no anemic symptom and no hepatosplenomegaly. The blood tests included: Hb 9.3 g%, MCV 46.2fl, MCH 15.3 pg, ferritin 198 ng/ml, Hb analysis using the capillary zone electrophoresis method: Hb AE, Hb A 82.3 %, Hb E 12.0 %. They both were initially diagnosed as having Hb E heterozygosity with moderate anemia from unknown causes. They were supportively treated with the iron tablets and folic acid without the improvement within three months. Because both patients had some clues, viz. the Hb, MCV, MCH and the Hb E level which were all too low to be solely attributed by Hb E heterozygosity, the PCR for alpha thalassemia genes was performed and revealed the existence of Southeast Asian (SEA) and 3.7 kb deletions similarly in both patients. Their diagnoses were finally corrected to be Hb AEBart disease, the co-inheritance of Hb E heterozygosity and Hb H disease. Conclusion: The absence of Hb Bart in Hb AEBart disease could lead to the wrong diagnosis. To correct the diagnosis in this situation, it needs the clinical competence of the physician and the sophisticated test such as genotypes study.