Optimizing the Detection of Hemoglobin H Disease

Hemoglobin (Hb) H disease is a mild to severe chronic hemolytic anemia. The disease most commonly results front an absence of three of the four alpha-globin genes. Hb H disease affects individuals throughout Southeast Asia, the Mediterranean Islands, and parts of the Middle East. The prevalence of Hb H disease lit the United States has increased in recent years. A presumptive diagnosis is relatively easy to make, given the patient's clinical history, complete blood count, peripheral smear, and iron studies. We report-eight cases of Hb H disease in the United States in which the diagnosis was hampered by the absence of Hb H on the alkaline hemoglobin electrophoresis gel. We also provide recommendations to help ensure diagnosis of Hb H disease.