Hemochromatosis is an inherited or secondary disorder caused by excessive
iron storage leading to multiple organ damage. We describe 2 patients with
diabetes mellitus caused by
hemochromatosis secondary to multiple
blood transfusions due to severe
aplastic anemia. Subject 1, who was diagnosed with severe
aplastic anemia at 15 years of age, received multiple
red blood cell transfusions before he underwent autologous
peripheral blood stem cell transplantation (PBSCT) at 22 years of age. At 21 years of age,
hyperglycemia was detected with increased
hemoglobin A1c and serum
ferritin levels, 9.7% and 12,910 ng/mL (normal range, 20-320 ng/mL), respectively. The 24-hour urine
C-peptide level was normal with negative antiglutamic
acid decarboxylase antibody. Subsequently,
metformin and an
iron-
chelating agent were administered. However, an intensive
insulin regimen was necessary 2 years after the onset of diabetes. Subject 2, who was diagnosed with severe
aplastic anemia at 2 years of age, received multiple
blood transfusions until she underwent haploidentical PBSCT at 13 years of age. At 11 years of age, she developed
diabetes mellitus with a high serum
ferritin level (12,559.8 ng/mL). She is currently 18 years old and has been treated with an intensive
insulin regimen and
estrogen/
progesterone replacement
therapy because of
hypogonadotropic hypogonadism. It is presumed that the loss of
insulin secretory capacity and
insulin resistance played a role in the pathogenesis of
diabetes mellitus due to
hemochromatosis in these cases.