presented by HAFIZ M WASEEM university of education LAHORE Pakistan i am from mailsi vehari and studied in lahore bsc in science college multan msc from lahore

1. Hemochromatosis
HAFIZ M WASEEM UNIVERSITY
OF EDUCATION LAHORE

2. Introduction
It is due to dysregulation of Iron absorption.
Excessive amount of iron builds up in body(iron overload).
Accumulation of additional iron occur in tissues and organ.
Most easily targeted organs includes:
 Liver, adrenal gland
 Heart, skin, gonads
 Joints and pancreas
 Most commonly due to mutation in HFE genes.
 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 female

3. History and Origin
 Firstly, identified in 1800s
 Named “Hemochromatosis” in 1889 by Von Recklinghausen.
 Inheritance described in 1935.
 HLA linkage to chromosome 6 identified 1976
 Described as a “Celtic mutation” originating in a Celtic population in
Central Europe and spreading west and north.

4. Genetic Basis
Gene responsible for hemochromatosis is HFE, codes for a
protein that contributes in regulation of iron absorption. HFE
gene has three genetic alternatives include:
 H63D
 C282Y
 S65C
 Genetic variants responsible for transition point mutation of
nucleotide( missense mutation)
 Homozygosity for C282Y- most common genotype

5. Signs and Symptoms
 Usually, symptoms can be seen between age of 30 and 60.
 Symptoms start developing earlier in men than in women.
Early Symptoms
• Fatigue
• Joint pain
• Weight loss
• Weakness
• Irregular periods or absent periods
Later Problems
• Skin pigmentation( metallic or slate grey)
• Abdominal pain and inflammation
• Yellowing of eyes and skin( jaundice)

6. Continue…
• Feeling thirsty all the time
• Severe pain and stiffness in joints( fingers)
• Chest pain, shortness of breath
• Swelling of hands and feet
• An irregular heartbeat (arrhythmia)

7. Types of hemochromatosis
 Primary hemochromatosis (hereditary)
 Secondary hemochromatosis
Hereditary hemochromatosis
 Disorder caused by the excess absorption of iron from diet.
 Extra amount of iron stores in tissues, organs especially skin,
heart, liver, pancreas and joints.
 Cause ultimate damage of tissue and organs.
 Hereditary disorder (autosomal recessive)

8. Signs and symptoms
 Fatigue, joint pain, abdominal pain
 Weight loss
 May develop diseases include arthritis, cirrhosis or liver cancer
 Diabetes , heart abnormalities, skin discoloration
 Environmental factors and lifestyle (amount of iron in diet,
alcohol use)can effect the appearance and severity of
symptoms.

11. Secondary Hemochromatosis
Occurs when a buildup of iron stems from another medical
condition, such as erythropoietic hemochromatosis. Other risk
factors may include:
 Alcohol dependency
 Family history of diabetes, heart disease or liver disease
 Taking iron or vitamin supplements
 Frequent blood transfusion

12. Diagnosis of Hemochromatosis
Frequently made by following the related finding on regular
blood screening of high serum liver enzymes or elevation of
transferrin saturation.
Blood Tests
• transferrin saturation level
• serum ferritin level
 Transferrin-transportation of iron in blood.
 Other blood test which are routinely performed include
• Blood count, renal function
• Live enzymes, electrolytes and glucose( and/or oral glucose
tolerance test)

13. Liver Biopsy
 Sample of tissue from liver
 Amount of iron in sample is measured and compared to
normal
 Indication of liver damage( cirrhosis)
MRI
 Non-invasive and precise alternative
Functional Testing
 Specific tests to check organ dysfunction(echocardiogram)
 Blood glucose monitoring for patients with
hemochromatosis diabetes

14. Treatment
Methods used for the treatment of hemochromatosis include:
Phlebotomy
 Most commonly used
 Process to remove some of the blood(venesection)
 Drain small amount of blood about 500ml from a vein in the
arm.
There are 2 man stages to treatment:
• Induction(removal of blood on regular basis)
• Maintenance(blood is removed less often)

16. Chelation Therapy
 Method involves taking medicine that remove iron from blood
 Deferasirox (once a day)
Diet
 Have a generally healthy, balanced diet
 Avoid “fortified” breakfast cereals
 Avoid taking iron and vitamin C supplements
 Be careful not to eat raw clams and oysters
 Avoid taking high amount of alcohol

17. THANK YOU