This book describes Hemochromatosis, Diagnosis and Treatment and Related Diseases
Hemochromatosis (iron overload) is a disease in which too much iron accumulates in the body.
In hemochromatosis, iron can accumulate in most of the body's organs, but particularly in the liver, heart, and pancreas.
Excess iron in the liver can produce an enlarged liver, liver failure, liver cancer, or cirrhosis.
Cirrhosis is the scarring or fibrosis of the liver, which induces the liver to not function well.
Excess iron in the heart can induce irregular heartbeats called arrhythmias and cardiac failure.
Excess iron in the pancreas can result in diabetes.
If hemochromatosis is not treated, it may even produce death.
Causes
Primary or Heriditary hemochromatosis is produced by a defective gene (HFE) that regulates how much iron the patient absorbs from food.
The identified mutations of the HFE gene are C282Y and H63D.
Secondary hemochromatosis normally is the effect of another disease or disorder that produces iron overload:
1.Certain forms of anemia
2.Atransferrinemia and aceruloplasminemia
3.Chronic liver diseases
Symptoms
Hemochromatosis can involve many parts of the body and produce different signs and symptoms at middle age.
Women are more probable to have symptoms first, such as fatigue (tiredness).
In men, complications such as diabetes or cirrhosis often are the first signs of the disease.
1.Joint pain,
2.Fatigue,
3.Stomach pain.
Diagnosis:
In hemochromatosis, the quantity of iron in the body may be too high, even though the level of iron in the blood is normal
1.Transferrin saturation (TS),
2.Serum ferritin level, and
3.Liver function tests
Transferrin is a protein that brings iron in the blood.
The TS test reveals how much iron the transferrin is carrying.
This helps the doctor determine how much iron is in the body.
The doctor may assess the serum ferritin level if the TS level is high.
A serum ferritin level test reveals how much iron is stored in the body's organs
The patient may have liver function tests to examine for injury to the liver
Blood tests alone cannot diagnose hemochromatosis
A liver biopsy can reveal how much iron is in the liver.
It is now rarely required because genetic testing for HFE mutations is very reliable in the diagnosis of hemochromatosis
MRI may be useful to detect and quantify hepatic iron excess
A superconducting quantum interference device (SQuID) is a machine that uses very sensitive magnets to measure the quantity of iron in the liver
Genetic testing can reveal whether the patient have a faulty HFE gene or genes.
1.Cells can be collected from inside the mouth using a cotton swab
2.A sample of blood can be drawn from a vein in the arm
Treatment
1.Therapeutic phlebotomy,
2.Iron chelation therapy,
3.Dietary changes
4.Treatment for complications.
The purposes of treating hemochromatosis are:
1.Reducing the amount of iron in the body to normal levels
2.Preventing or delaying organ damage from iron overload
3.Treating complications of the disease
4.Maintaining a normal amount of iron in the body for the rest of the life
Therapeutic phlebotomy is a procedure that drains blood (and iron) from the body.
A needle is placed into a vein, and the blood flows through an airtight tube into a sterile container or bag.
In the first stage of treatment, about 1 pint of blood is removed once or twice a week.
After the iron levels return to normal, the patient may persist with phlebotomy treatments every 2–4 months for the rest of his or her life
Iron chelation therapy uses medicine to remove excess iron from the body.
Injected iron chelation therapy with Deferoxamine
Oral iron chelation therapy with deferasirox
Stop taking iron
TABLE OF CONTENT
Introduction
Chapter 1 Hemachromatosis
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Wilson Disease
Chapter 8 Aluminium Toxicity
Epilogue
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