TY  - CHAP
M1  - Book, Section
TI  - Clinical Practice: Molecular Pathology
A1  - Gulley, Margaret L.
A2  - Reisner, Howard M.
Y1  - 2015
N1  - 
T2  - Pathology: A Modern Case Study
AB  - A  30-year-old  man  developed  liver  cirrhosis  and  diabetes.  Laboratory  studies  showing  high  serum  ferritin  and  high  transferrin  saturation  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  HFE  C282Y  mutation  without  wild-type  DNA  at  that  locus.  Homozygous  HFE  gene  mutation  with  the  predicted  amino  acid  substitution  predisposes  to  iron  overload  by  overabsorption  of  iron  from  the  diet.  He  was  treated  with  therapeutic  phlebotomy  until  his  serum  iron  levels  returned  to  the  normal  range.  He  remains  at  risk  for  iron  overload,  and  he  should  be  periodically  monitored  and  managed  accordingly.  A  genetic  counselor  educated  him  about  the  increased  risk  of  iron  overload  faced  by  blood  relatives  if  they,  too,  inherited  two  mutated  alleles  of  the  HFE  gene.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/23
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1115278805
ER  -