Hemoglobin H Disease: A rare case report and its diagnostic challenge.

  • R Sindhu Berhampur university, Odisha
  • S K Behera
  • D P Mishra
Keywords: Pregnancy, HbH disease, Hemoglobin, Thalassemia


Thalassemia the most common monogenic gene disorder in the world is especially frequent in Mediterranean countries. Hemoglobin H (Hb H) disease is a special variant of α-thalassemia presenting as microcytic hypochromic anemia. The clinical phenotypes of most individuals remain unnoticed unless there occurs an acute hemolytic crisis and they are most often underdiagnosed or misdiagnosed as iron deficiency anemia. Here we report a case of 34 year old pregnant women who presented with pallor and mild splenomegaly. Complete blood count (CBC) showed decrease in Mean Corpuscular Volume (MCV), Mean Corpuscular Hemoglobin (MCH), Mean Corpuscular Hemoglobin Concentration (MCHC) and increase in Red  Cell Distribution Width (RDW) and reticulocyte percent. Peripheral smear showed microcytic hypochromic Red Blood Corpuscles (RBCs) with severe anisopoikilocytosis. Supravital staining of peripheral blood showed Hb H inclusions in RBCs. The increase in reticulocyte percent here is due to mature RBC’s having Hb H inclusions that are misinterpreted as reticulocytes by automated cell counters. Hence, in a background of variable clinical presentation of this disease, we consider this case to highlight the importance of simple peripheral smear examination and supravital staining of peripheral blood in the diagnosis of Hb H disease which are often misdiagnosed as iron deficiency anemia by seeing CBC results. It is also  important to emphasize the importance of early diagnosis of these cases to facilitate implementation of proper preventive health care measure, ensure fetal well being and  prompt treatment of potentially serious hemolytic crisis that can occur during pregnancy.

Author Biography

R Sindhu, Berhampur university, Odisha
Department of pathology, Postgraduate


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Case Reports