TY  - CHAP
M1  - Book, Section
TI  - Chapter 41. Hereditary Hemochromatosis
A1  - Smith, Benjamin
A1  - Grace, Norman D.
A2  - Greenberger, Norton J.
A2  - Blumberg, Richard S.
A2  - Burakoff, Robert
Y1  - 2012
N1  - 
T2  - CURRENT Diagnosis & Treatment: Gastroenterology, Hepatology, & Endoscopy, 2e
AB  - Hemochromatosis  classically  refers  to  HFE-mediated  genetic  iron  overload,  but  several  alternatively  mediated  genetic  iron  overload  syndromes  have  been  described.C282Y  is  the  major  mutation  and  H63D  the  minor  mutation  of  the  HFE  gene;  individuals  with  two  copies  of  C282Y  or  one  copy  of  both  mutations  (compound  heterozygote)  are  at  risk  for  iron  overload.Excess  iron  deposition  in  tissues  leads  to  end-organ  damage;  advanced  hemochromatosis  typically  involves  the  liver  first  and  may  also  involve  the  pancreas,  heart,  pituitary  gland  and  other  organs.Most  patients  are  identified  by  laboratory  screening  or  family  history  and  are  asymptomatic  at  diagnosis.Symptomatic  patients  usually  present  with  nonspecific  complaints  of  fatigue,  arthralgias,  and  abdominal  pain.Screening  studies  include  serum  iron/total  iron-binding  capacity  (abnormal  if  >45%  in  women,  >50%  in  men)  and  serum  ferritin  (abnormal  if  >200  mcg/dL  in  women,  >300  mcg/dL  in  men);  if  either  test  is  positive,  genetic  testing  should  be  pursued.Liver  biopsy  to  assess  iron  concentration  and  hepatic  iron  index  is  indicated  if  serum  ferritin  is  >1000  mcg/dL,  liver  tests  are  abnormal,  or  hepatomegaly  is  noted  on  physical  examination.  
SN  - 
PB  - The McGraw-Hill Companies
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessmedicine.mhmedical.com/content.aspx?aid=55960919
ER  -