Iron deficiency anemia masking hemoglobin H disease: A case report

Abstract

Hemoglobin H disease (Hb H) in adult patients can be diagnosed by identifying the band of Hb H with or without Hb Bart on Hb electrophoresis, and probably confirmed by genotyping study. However, Hb H may be suppressed by some acquired factors including iron deficiency anemia. Herein, we report a case of a 55-year-old woman was recognized as having chronic anemia since childhood. She was treated with occasional transfusions, one or two units a year. Her first Hb electrophoresis showed: HbA₂A, HbA₂ 2.1%, while her Hb was 5.1 d/dL, her ferritin 6.2 ng/mL, and transferrin saturation 13.2%. She was diagnosed as having iron deficiency anemia and treated with iron compound. The causes of iron deficiency could not be definitely concluded. Two months later, her Hb level and ferritin were 8.8 g/dL and 110.7 ng/mL, respectively. Her new Hb electrophoresis showed: HbA₂ABartH, HbA₂ 1.7 %, and HbF 0.8%. The diagnosis of Hb H disease was therefore added. In spite of the rarity of iron deficiency anemia superimposing over Hb H, if the patients with Hb H disease with unusually severe anemia were encountered, iron deficiency should be considered as one of the contributing factors. On the contrary, when iron was adequately supplemented in case of iron deficiency anemia, the Hb level could not access the normal range; Hb H disease should therefore be excluded because iron deficiency could completely suppress Hb H band.