Hereditary hemochromatosis (HH) is a hereditary disease associated with iron overload in multiple organs. Autoimmune hemolytic anemia is an autoimmune disease where extravascular hemolysis takes place mainly in spleen and may be associated with secondary hemochromatosis. HH is common among northern European people and very rare in China. This unique case is first time ever reported in China describing a 23-year-old Chinese woman with a history of splenectomy at age 13 due to autoimmune hemolytic anemia, secondary amenorrhea at age 19 which had not been investigated before and diabetes mellitus at age 22 presenting with congestive heart failure and hepatomegaly. Her chronic autoimmune hemolytic anemia alone could not sufficiently justify secondary hemochromatosis and iron overload syndrome due to which possibility of HH (probably Juvenile Hemochromatosis) was considered mainly on the basis of increased serum iron and transferrin saturation more than 45%, iron deposits in Magnetic Resonance Imaging (MRI) of liver, heart and pituitary gland, and clinical manifestations. However, secondary hemochromatosis couldnt be excluded as patient denied taking genetic sequencing test for HH. When genetic screening is not feasible or readily available, we encourage that in autoimmune hemolytic anemia cases, iron metabolism measurements should be performed routinely which might help in early recognition of HH or secondary hemochromatosis even before excessive iron overload so that phlebotomy or iron chelators can be used as early as possible to prevent possible organ damage. Due to rarity of disease there is less data available regarding the cardiac manifestations and management, we also tried to focus on treatment especially congestive heart failure, arrhythmia which is the presenting manifestation in young adults in hemochromatosis. Therefore, main aim of this case report is to support the pre-existing evidences for diagnosing Juvenile Hemochromatosis (JH) on the basis of transferrin saturation and serum ferritin levels, clinical manifestations and radiography of target organs.
Key words: Hereditary hemochromatosis, iron overload, autoimmune hemolytic anemia, congestive heart failure, cardiomyopathy
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