The Patient with Hemoglobin H Disease and Iron Deficiency Anemia Achieves Normal Hemoglobin Concentration after Adequate Iron Therapy: A Case Report
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Abstract: Hemoglobin H disease (Hb H) is a genetic anemia and the patients with this disease usually havemoderate pallor, mean hemoglobin concentration of 8.58+1.16 g% or range between 5.7 and 11.1 g%. But in this study, the patient with Hb H disease could achieve normal Hb concentration after the complication with the iron deficiency anemia was adequately treated. He was a 49-year-old single Thai patient who was recognized to have frank anemia and splenomegaly since early childhood. He was diagnosed as Hb H disease based on the Hb electrophoresis, later confirmed by the genotypic evidence of α(0)-thalassemia and α(+)-thalassemia using polymerase chain reaction (PCR) method. His Hb level was 2.6-3.2 g% and he needed blood transfusion every month since then. The splenectomy was performed at 29 years of age due to suspected hypersplenism. After operation, Hb level was 4.2-5.9 g%, and he still needed transfusion every month as usual. At 47 years of age, after being transfused more than 500 units of blood, the iron study showed the serum ferritin of 5.4-7.2 ng/mL, serum iron of 38 ug/dL, transferrin of 258.2 ug/dL and transferrin saturation of 10.4%. The gastroscopy revealed generalized mild hypertrophic gastritis with multiple erosions. He was definitely diagnosed as having iron deficiency anemia on top of Hb H disease. After taking iron containing tablets 3 times a day for 1 month, his Hb was up to 10 g% without blood transfusion. The Hb and Hct could be maintained around 10.4+1.7 g%, and 33.8+6.1 %, respectively whereas the serum ferritin was 14.7 ng/ml and then iron therapy was continued. Two years later, his Hb and Hct could be raised to be 14.9+3.9 g% and 50.0+1.6 %, respectively whereas the serum ferritin was 386.1 ng/ml. The PCR for JAK2 V617F mutation was not found but PCR for alpha thalassemia was found to be Southeast Asian (SEA) deletion and 3.7 kb deletion. Our case seemed to suggest that when the Hb H patient had severe degree of anemia, the definite etiologies such as iron deficiency anemia should be searched for. Otherwise the chance to be free from anemia would be delayed for many decades.
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