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By: Naomi Thompson

Haemochromatosis is a condition in which there is a build up of excess iron in various organs of the body. The built up of iron is known as, iron overload.This disease is caused by mutations in the HFE gene on chromosome number 6, which is inherited in an austomal recessive pattern.Haemochromatosis is able to damage the liver, the pancreas, joints, the heart and others.Condition can either be acquired or inherited (HH).

Hereditary Haemochromatosis (HH)

HH During Pregnancy

Background Knowledge

Signs and Symptoms

Symptoms and signs begin between the ages of 30 and 60, though there are cases in which they have been seen earlier.Some symptoms develop earlier in men than in women. Symptoms are developed in women until after menopause. Earlier Symptoms:FatigueWeight LossWeakness Joint painErectile Dysfunction (Men)Irregular or Absent Periods (Women)Later Problems:Libido (Loss of sex drive)Darkening of the skinAbdominal pain and swellingJaundice (Yellow disocolouration of the skin)Extreme ThristPain and stiffness of joints (fingers)Chest painsShortness of breathSwelling of hands and feetArrythmia (Rapid heart beat)Testicles get smaller (Men)

Haemochromatosis can be passed on to a child by his or her parent.HH is linked to a fault in the HFE gene affecting the ability to absorb iron from food.- Cause of HH:Every person has two copies of the HFE gene, the HFE gene is located on chromosome 6 and has the job of creating a special protein able to regulate the absorption, transfer, and storage of iron. Some people have a normal funtioning copy of the gene, while the other copy has a mutation. This means that the person has two different forms of the gene, referred to as heterozygous.With one functioning copy, a person is still able to produce amounts of genetic carriers for HH in the iron obsorption regulating protein.Genetic carriers have the ability of passing the faulty HFE gene to their offsprings through the egg or sperm cell.Having two bad fucntioning copies of the gene can develop symptoms of HH meaning that the person has two of the same fauty genes, which is known as homozygous.HH is a condition of low penetrance, menaing that within members of the same family who have the same homozygous mutation, some will be affected while others may show no symptoms. Since it is of low penetrance it is hard to find which individuals will develop the disease.- How is HH inherited?inherited in an autosomal recessive pattern, meaning that in order to develop the signs and symptoms of the disease, both copies of the HFE gene have to be at fault. - Both parents as genetic carriers = (Fig. 2.)25% chance their child will inherit both copies of the recessive gene mutation. Child will be suceptible to developing HH.25 % chance child will inherit both copies of the working gene, meaning he/she will be unaffected by HH.50% chance child will inherit a recessive gene mutation copy and a wokring copy of the gene. He/she will be an unaffected genetic carrier for HH.

- One parent as a genetic carrier = (Fig. 1.)The chance of having a child affected by HH is impossible.50% chance child will inherit a working gene and a recessive gene mutation, meaning the child will be unaffected with HH as genetic carrier.50% chance child will inherit both copies of the working gene . making him/her unaffected by HH.

This video talks in depth about Haemochromatosis and information I have covered on the poster; causes, symptoms, diagnosis, treatment and pathology.

Fig. 1. One parent affected with HH as genetic carrier.

Fig. 2. Both parents affected with HH as genetic carriers.



HH During Pregnancy

Haemochromatosis (acquired or inherited0 is most commonly diagnosed with a blood test to look for the prescence of haemochromatosis if a carrier of a gene fault Blood tests are able to determine: the amount of iron in the blood (transfering saturation level), the amount of iron stored in the body (serum ferritin level), and lastly if the persons DNA carriers any faulty genes.If HH is determined then genetic testings will be done.

- Other Possible Tests :After a positive blood test, further tests are taken to examine if any organs in the body have been damaged. Some tests include: another blood test to determine if any substances have affected the liver, a liver biopsy to check for any faults, and an MRI scan to search for iron in the liver as well as any damaged.

Symptoms in different organs

Possible Complications

Currently there is no cure for Haemochromatosis, yet there are possible treatments to decrease iron levels in the body, as well as relieve symptoms and the rish of damaging certain organs.- Main Treatments 1. Phlebotomy (most common)It is the removal of blood which includes red blood cells containing iron.Two stages: Induction - blood is removed frequently, weekly, until iron leevels are normal. Maintenance - blood removed frequently, controlling iron levels.2. Chelation TherapyIf a phlebotomy could not be perfomed due to thin and fragile veins, then this therapy will be done.Medication (defasirox) to remove iron levels trhough urine or stool.3. Diet and AlcoholIt is recommended to have a balanced healthy diet avoiding food with extra iron. Iron and Vitamin C supplements should not be taken. Alcohol in excess should be avoided as it can increase iron levels and affect the liver.

There are possible complications that can happen if Haemochromatosis is not diagnosed or treated on time, resulting in other diseases.1. Liver DamageHaemochromatosis has the ability of affecting the liver in some way as high iron levels could damage it. Scarring of the liver can happen such as, cirrhosis, which can also increase the risk of liver cancer. Some symtpoms fro cirrhosis are: jaundice, tiredness, apetite and weight loss, itchy skin, and terderness around the liver. To cure cirrhosis a liver transplant will be needed. 2. Diabetes Can occur when high levels of iron damage the pancreas. This will decrease the pancreas' production of insuling, increasong the body's sugar levels. Some symptoms are: thirst, tiredness, and the need to urine more often. 3. ArthritisHigh iron levels in Haemochromatosis may damage the joints. Symptoms include: painful, stiff, and swelling joints. Painkillers can help reduce the pain, but if severe, the joint will have to be replaced with an artificial one.4. Heart ProblemsCardiomyopathy (heart muscle disease) can occur if high levels of iron damages the muscles of the heart, which may lead to a difficulty in the ability of pumping blood. Symptoms are: shortness of breath, tiredness and weakness, swelling of the legs, ankles, and fee (oedema).Heart problems may usually be treated with medication.

This video talks more about Hereditary Haemochromatosis explained by William Palmer M.D. FROM Mayo Clinic.


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