Abstract
Hereditary hemochromatosis (HH) is a multisystem disease characterized by iron overload and various clinical presentations, including cirrhosis, diabetes mellitus, and heart failure. HH can be caused by the human homeostatic iron regulator (HFE) and non-HFE gene mutations. Aplastic anemia is a rare, life-threatening bone marrow failure in which fat replaces pluripotent stem cells, resulting in pancytopenia and hypoplasia of bone marrow. We present a case of a five-year-old-boy who initially presented with a large ecchymosis located at the right side of the chest and abdomen. These started suddenly after minor trauma. Later, he was diagnosed with idiopathic aplastic anemia and treated with immunosuppressive therapy (IST). As part of the workup for pancytopenia, we ordered whole exome sequencing (WES) and diagnosed the patient with autosomal recessive hereditary hemochromatosis (ARHH). The ARHH is caused by HFE pathogenic gene mutation variant (c.187C>G p homozygous genotype). After six months of IST, he still had persistent disease. Human leukocyte antigen (HLA) typing showed he has a sister who is a full match but also has ARHH. Because of this, a haploidentical hematopoietic stem cell transplantation (hHSCT) from the father was performed. The hHSCT had a successful outcome. We suggest that in children with idiopathic aplastic anemia, physicians should be aware of the possibility of co-existing hereditary hemochromatosis or secondary hemochromatosis. Serum ferritin and transferrin saturation should also be measured regularly in order to detect early hemochromatosis.