Haemoglobin h disease: a disease lost in the crowd!

Sangita Kamath., Farah Rana and Ballamudi Srinivas Rao

Hb H disease is the most severe form of α-thalassemia caused by deletions of variable length or point mutations in 3 α-globin genes. The prevalence of alpha thalassaemia in India varies from one sub-geographical area to another. Sporadic cases have been reported from India. It generally presents as microcytic, hypochromic anemia and go unnoticed unless there occurs an acute hemolytic crisis during infection, pregnancy or following use of oxidative drugs.  Most often, they are under-diagnosed or misdiagnosed as iron deficiency anemia. We report a case of 18 year old boy who presented with fever with severe anemia and severe 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) by automated cell counter. Peripheral smear showed microcytic hypochromic Red Blood Corpuscles (RBCs) with severe anisopoikilocytosis. Supravital staining of peripheral blood showed HbH inclusions in RBCs. Hemoglobin electrophoresis showed decreased HbA2 fraction with HbH. The case is hence reported to highlight the importance of simple peripheral smear examination, and in suspected cases, the need to do hemoglobin electrophoresis along with supravital staining of the erythrocytes or else the case may be misdiagnosed and treated as iron deficiency. It is also important to emphasize the importance of early diagnosis to facilitate implementation of proper preventive health care measures and prompt treatment of potentially serious haemolytic crisis.


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