it is iron overload in body due to dysregulation of Iron absorption.

1. Dr. Akif A.B

2.  It is due to dysregulation of Iron absorption.
 Most commonly due to mutation in HFE gene at Chromosome 6.
 Most common gene is C282Y.
 Normal body iron stores = 3-4gm
 Daily iron absorption and excretion = 1mg/d in males and
1.5mg/day in females.
 In hemochromatosi daily absorption increases to 4mg/day
whereas excretion remains same

5. 1. Genetic predisposition without manifestations
2. Iron overload without symptoms
3. Iron overload with symptoms (Fatigue)
4. Iron overload with organ failure

6.  Non specific
 Liver
 Skin
 Heart
 Pituitary
 Joints

7.  These are the initial symptoms:
 Lethargy/ Fatigue : MC symptom of Hemochromatosis
 Skin discoloration
 Arthralgia
 Loss of Libido
 Features of Diabetes Mellitus.

8.  Most commonly involved in Advanced disease
 Present in 95% patients of Advance disease
 Hepatomegaly
 Cirrhosis
 Hepatocellular carcinoma develops in 30% patients

9.  Metallic or sley grey
 Due to increase Iron and Melanin in Dermis
 Generalised and diffuse
 Known as Bronzing

10.  65% of patients
 More prone in family history of Diabetes.
 Occurs due to Iron deposition in Pancreatic Islet cells.

11.  25-50% patients
 Most commonly involves : 2nd and 3rd Metacarpo-
Phalangeal Joint.

12.  15% patients
 Most common presentation : Congestive heart failure
 Cardiomyopathy occurs

13.  Occurs in both sexes
 Occurs due to iron deposition in Pituitary
 Leading to Hypogonadotropic hypogonadism.

14.  Hypoadrenalism
 Hypothyroidism
 Hypoparathyroidism

15.  Transferrin saturation : >45% (Normal=22-45)
 Serum ferritin : Elevated 300->1000 (Normal =20-
250µg/L)
 TIBC : Normal or slightly elevated
 Serum iron : Elevated

16.  Serum iron is also elevated in Alcoholic liver disease
but hepatic iron is not increased in it.
 So both Serum ferritin and Transferrin level should be
used for diagnosis of Hemochromatosis.
 An increase in 1µg/L of Ferritin indicates Increase of
5mg of Iron Iron body stores

19.  Phlebotomy
 Weekly or twice weekly
 500ml blood is removed
 500ml blood removes 200-250mg of Iron
 Total of 25gm of Iron need to be removed
 To be continued till serum ferritin levels : <50µg/L
 After that one phlebotomy every 3 monthly

20.  Parenteral - Deferoxamine (Oral – Deferaxirox)
 Removes 10-20mg Iron per day
 Less effective than Phlebotomy
 More costlier
 Indicated only in severe anemia and severe
hypoalbuminemia where Phlebotomy cant be done

21.  Iron supplementation should be avoided
 Vitamin C supplementation should be avoided
 Alcohol should be avoided
 Management of Cardiac failure, Heaptic failure and
Diabetes is as routinely managed.
 Treatment cannot reverse Cirrhosis.

22.  5 year survival rate increases from 33-89% with phlebotomy
 Major cause of Death are:
 Cardiac failure
 Hepatic failure
 Hepatocellular carcinoma
 Portal hypertension