RT Book, Section
A1 Gulley, Margaret L.
A2 Reisner, Howard M.
SR Print(0)
ID 1173768182
T1 Clinical Practice: Molecular Pathology
T2 Pathology: A Modern Case Study, 2e
YR 2020
FD 2020
PB McGraw-Hill Education
PP New York, NY
SN REISNERPATHOL
LK accessmedicine.mhmedical.com/content.aspx?aid=1173768182
RD 2024/04/23
AB A  30-year-old  man  developed  liver  cirrhosis  and  diabetes.  High  serum  ferritin  and  high  transferrin  saturation  levels  led  to  the  hypothesis  that  iron  toxicity  to  the  liver  and  pancreas  contributed  to  his  cirrhosis  and  diabetes.  A  blood  specimen  was  tested  for  mutation  in  the  HFE  gene  that  is  responsible,  at  least  in  part,  for  hereditary  hemochromatosis.  Polymerase  chain  reaction  (PCR)  followed  by  melt  curve  analysis  was  performed,  and  a  pathologist  interpreted  the  findings  as  homozygous  HFE  C282Y  mutation.  The  HFE  gene  mutation  is  predicted  to  cause  an  amino  acid  substitution  in  the  encoded  protein,  predisposing  the  patient  to  iron  overload  via  overabsorption  of  iron  from  the  diet.  A  straightforward  treatment  is  available  to  overcome  iron  overload  in  affected  patients.  This  patient  was  treated  with  therapeutic  phlebotomy  until  his  serum  iron  levels  returned  to  the  normal  range.  He  remains  at  risk  for  recurrence  of  iron  overload,  and  he  should  be  periodically  monitored  for  evidence  of  high  serum  ferritin.  This  is  a  heritable  disorder,  and  a  genetic  counselor  educated  the  patient  about  the  increased  risk  of  iron  overload  faced  by  blood  relatives  who  may  also  have  inherited  two  mutant  alleles  of  the  HFE  gene.