INTRODUCTION, DEFINITION, TYPES OF HEMOCHROMATOSIS, ETIOLOGY OF GENETIC HEMOCHROMATOSIS, RISK FACTOR FOR GENETIC HEMOCHROMATOSIS, TREATMENT AND MANAGEMENT OF GENETIC HEMOCHROMATOSIS

1. HEREDITARY/
GENETIC
HEMOCHROMATOSIS
Presented by:
Manisha Thakur
Nursing Tutor
Child Health Nursing

2. INTRODUCTION
• Hereditary hemochromatosis is an inherited predisposition to
absorb excess iron (Fe) from the diet
• Total body iron may reach up to 20-60g, normal body iron is
3-4g
• Mutations in the HFE gene at chromosome 6, are the most
common cause of adult onset iron overload
• In some predisposed individuals, excessive iron absorption
and subsequent storage in various organs (i.e. liver, pancreas,
heart, joints and pituitary) eventually lead to cellular injury
• If untreated, over time this can cause irreversible tissue/organ
damage and shorten life expectancy.

4. Definition
• It is also called as hereditary hemochromatosis, which is
defined as an iron overload disorder occur due to inheritened
altered or mutated copies of the HFE gene leading to absorbs
too much of iron from the diet.

5. ETIOLOGY
• Autosomal Recessive Inheritance
• The people Heriditory hemochromatosis not always develop
sign and symptoms because it is Autosomal Recessive
Inheritance an individual must inheritend mutated copy of
HFE gene from both the parents to develop the disorder.
• A carrier can pass the diseases but will not have the disease.
• If only one parent is a carrier of defective gene, the child will
not have hemochromatosis, 50% chances are there that child
will be carrier.
• If both the parent is a carrier of defective gene, there are
25% chances that child will have hemochromatosis and 50%
chances are there that child will be carrier.

7. Factor affecting Clinical
manifestations
• Sex : men are twice as likely to affect from hemochromatosis.
• Dietary iron: people taking supplements that contain iron and
vitamin c which increases absorption of iron will have symtoms
a younger age.
• Alcohol: will have high and early symptoms of
hemochromatosis.
• Blood loss in menstruation and blood doner: loses iron
through menstruation and donating blood and may delay onset
of symptoms.
• Alcohol abuse and Hepatitis C accelerate.
• Mutation type: two common mutations which causes genetic
hemochromatosis: H63D less severe. And C282Y cause much
severe symptoms.

8. Clinical manifestation
• weakness, lethargy
• skin discoloration (bronze or grey)
• abdominal pain with or without hepatomegaly
• joint pain and/or stiffness, arthritis
• diabetes
• Short of breath
• cardiomyopathy
• cirrhosis
• hepatocellular carcinoma

9. Diagnosis
• Tansferrin saturation test: determines how much iron is held
by the protein that carries iron in the blood.
In males At fasting, transferrin
saturation > 60%
In females At fasting, transferrin
saturation >50%
Suggest iron overload

10. • Serum ferritin level test: measures iron storage in the liver
• Normal range: 20 – 300 microgram
• High level >15000 microgram / L suggests hemochromatosis.
• Liver biopsy: a liver biopsy can be done which will measure
the hepatic iron.
• Genetic testing

11. Management
• Weekly phlebotomy until iron reach normal (500ml (removes
200-250 gm of iron) of blood is removed weekly).
• Chelation therapy: deferoxamine and deferasirox bind to iron
and helps to remove excess iron present in the body.
• This removes 10-20mg iron /day.
• Avoidance of iron supplements and vitamin supplements.
• Regular monitoring of serum ferritin levels.