The Delayed Diagnosis of Hemoglobin EFBart Disease
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Abstract
Hemoglobin (Hb) EFBart disease is a genetic disease resulted from the co-inheritance of Hb H disease and Hb E disease or beta thalassemia / Hb E disease. The patients usually have moderate anemia with the red blood cell microcytosis. In this study, we report a case of 23-year old Thai woman who has moderate anemia that has been occasionally treated with blood transfusion since childhood.On the physical examination, she has moderate pallor without jaundice, no thalassemic facy, no hepatomegaly. She was splenectomized at 16 years of age due to suspected hypersplenism. Blood tests: Hb 7.0+0.5 g%, MCV 57.4+1.5 fL, MCH 16.5+0.7 pg, NRBC 12.3+12.7/100 WBC, hypochromia 1+, target cell 3+, anisopoikilocytosis 2+. Hb electrophoresis has been performed for many times using HPLC method and shows mainly Hb E, 77.9-89.0 %, and Hb F 0-5.7%. Genotype study for beta thalassemia shows only homozygous Hb E genes, no beta thalassemia, therefore she has been misdiagnosed as Hb E disease with more severe anemia than usual, with high serum ferritin, 1,030.8+237.8 ng/mL for a very long time. Nonetheless because her Hct / Hb ratio is noticed to be 3.428 which is consistent with that of the alpha-thalassemia diseases, her blood is tested and found to have alpha-thalassemia-1, Thai deletion type and alpha-thalassemia-2 genes. Her definite diagnosis is corrected to be Hb EFBart disease that more appropriately accounts for moderate, long term microcytic anemia in this patient. She is continually treated with occasional blood transfusion, regular chelation and folic acid. In this case, the proper diagnosis has been delayed because the Hb electrophoresis always shows only Hb E as a major component with or without small amount of Hb F for many times whereas Hb Bart has never been recognized, possibly because of the instability of Hb Bart itself or else its very low percentage in Hb EFBart disease or the combination of both.
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