Delayed Diagnosis of Congenital Sideroblastic Anemia

A 65-year-old female of Italian and Danish ancestry was referred to our hematology clinic for evaluation of macrocytic anemia and iron overload. Family history was remarkable for anemia in her mother and sister. Her past medical history was significant for anemia since childhood. During her youth she was treated with vitamin B12 supplements without improvement. She was found to have a high transferrin saturation and ferritin and was diagnosed with hemochromatosis by an outside hematologist. However, she tested negative for the C282Y, H63D and S65C hemochromatosis mutations.
Source: Seminars in Hematology - Category: Hematology Authors: Source Type: research