Hemochromatosis, (Iron overload) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

By Kenneth Kee

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 Hemachromatosi

• Language: English
• Publisher: Kenneth Kee
• Release date: Mar 11, 2018
• ISBN: 9781370291960

Kenneth Kee

Medical doctor since 1972.Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009.Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993.Dr Kenneth Kee is still working as a family doctor at the age of 74However he has reduced his consultation hours to 3 hours in the morning and 2 hours inthe afternoon.He first started writing free blogs on medical disorders seen in the clinic in 2007 on http://kennethkee.blogspot.com.His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.comThis autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com.From which many free articles from the blog was taken and put together into 1000 eBooks.He apologized for typos and spelling mistakes in his earlier books.He will endeavor to improve the writing in futures.Some people have complained that the simple guides are too simple.For their information they are made simple in order to educate the patients.The later books go into more details of medical disorders.He has published 1000 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter.The purpose of these simple guides is to educate patient on health disorders and not meant as textbooks.He does not do any night duty since 2000 ever since Dr Tan had his second stroke.His clinic is now relocated to the Buona Vista Community Centre.The 2 units of his original clinic are being demolished to make way for a new Shopping Mall.He is now doing some blogging and internet surfing (bulletin boards since the 1980's) startingwith the Apple computer and going to PC.The entire PC is upgraded by himself from XT to the present Pentium duo core.The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive.He is also into DIY changing his own toilet cistern and other electric appliance.His hunger for knowledge has not abated and he is a lifelong learner.The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned.This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale.Dr Kee is the author of:"A Family Doctor's Tale""Life Lessons Learned From The Study And Practice Of Medicine""Case Notes From A Family Doctor"

Book preview

Hemochromatosis,

(Iron overload)

A

Simple

Guide

To

The Condition,

Diagnosis,

Treatment

And

Related Conditions

By

Dr Kenneth Kee

M.B.,B.S. (Singapore)

Ph.D (Healthcare Administration)

Copyright Kenneth Kee 2018 Smashwords Edition

Published by Kenneth Kee at Smashwords.com

Dedication

This book is dedicated

To my wife Dorothy

And my children

Carolyn, Grace

And Kelvin

This book describes Hemochromatosis, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

(What The patient Need to Treat Hemochromatosis)

This eBook is licensed for your personal enjoyment only. This eBook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each reader.

If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy.

Thank you for respecting the hard work of this author.

Introduction

I have been writing medical articles for my blog http://kennethkee.blogspot.com (A Simple Guide to Medical Disorder) for the benefit of my patients since 2007.

My purpose in writing these simple guides was for the health education of my patients.

Health Education was also my dissertation for my Ph.D (Healthcare Administration).

I then wrote an autobiolographical account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.com.

This autobiolographical account A Family Doctor’s Tale was combined with my early A Simple Guide to Medical Disorders into a new Wordpress Blog A Family Doctor’s Tale on http://kenkee481.wordpress.com.

From which many free articles from the blog was taken and put together into 800 eBooks.

Some people have complained that the simple guides are too simple.

For their information they are made simple in order to educate the patients.

The later books go into more details of medical disorders.

The first chapter is always from my earlier blogs which unfortunately tends to have typos and spelling mistakes.

Since 2013, I have tried to improve my spelling and writing.

As I tried to bring the patient the latest information about a disorder or illness by reading the latest journals both online and offline, I find that I am learning more and improving on my own medical knowledge in diagnosis and treatment for my patients.

Just by writing all these simple guides I find that I have learned a lot from your reviews (good or bad), criticism and advice.

I am sorry for the repetitions in these simple guides as the second chapters onwards have new information as compared to my first chapter taken from my blog.

I also find repetition definitely help me and maybe some readers to remember the facts in the books more easily.

I apologize if these repetitions are irritating to some readers.

Chapter 1

Hemachromatosis

What Is Hemochromatosis?

Hemochromatosis (iron overload) is a disease in which too much iron accumulates in the body.

Iron is a mineral present in many foods.

Excess iron is toxic to the body.

It can damage the organs and cause organ failure.

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.

Liver fibrosis, cirrhosis and hepatocellular carcinoma are the most serious complications of iron overload.

Early diagnosis and treatment are therefore essential.

What are the causes of Hemochromatosis?

Causes

The two forms of hemochromatosis are primary and secondary.

Primary Hemochromatosis

Primary hemochromatosis is produced by a defective gene (HFE) that regulates how much iron the patient absorbs from food.

This form of the disease occasionally is called hereditary or classical hemochromatosis.

Primary hemochromatosis is more frequent than the secondary form of the disease.

Primary hemochromatosis is a heterogeneous group of disorders related to deficiency of the iron regulatory hormone hepcidin.

Primary hemochromatosis is an autosomal recessive genetic disease in which raised intestinal absorption of iron produces buildup in tissues, mainly the liver, which may lead to organ damage.

The genes normally affected in primary hemochromatosis are called HFE genes.

Faulty HFE genes induce the body to absorb too much iron.

Most people who have primary hemochromatosis get it by inheritance from their parents.

If the patient inherits two HFE genes (one from each parent) the patient is at danger from iron overload and signs and symptoms of the disorder.

The two faulty HFE genes induce the body to absorb more iron than normal from the foods the patient eats.

If the patient inherits one faulty HFE gene and one normal HFE gene, the patient is a hemochromatosis carrier.

Carriers normally do not have the disease.

They can pass the faulty gene on to their children.

Defects of the HFE gene (located on the short arm of chromosome 6) cause the majority of cases of inherited hemochromatosis, which is therefore often referred to as HFE hemochromatosis

HFE was the only known gene linked with hemochromatosis but it is now acknowledged that there re other genetic linkages.

Doctors continue to study what alterations to normal genes may produce the disease.

A systematic review has shown that about 0.4% of people of northern European descent have inherited the genetic mutation that raises the risk of forming hemochromatosis but the medical penetrance of the mutation is much lower than the genetic incidence

The identified mutations of the HFE gene are C282Y and H63D.

The C282Y mutation has been most frequently found in white populations

The frequency of C282Y homozygosity in a meta-analysis of hemochromatosis patients of European ancestry was 80.6%.

HC is a relatively frequent genetic disorder in northern European populations and is possibly under-diagnosed

Hemochromatosis is passed on in an autosomal recessive way but the medical picture is more complicated because the expression (penetrance) of the gene differs.

This indicates that not everyone who is homozygous for HC genes will develop medical disease.

The difference in gene expression may be because of other factors involving iron accumulation.

Secondary Hemochromatosis

Secondary hemochromatosis normally is the effect of another disease or disorder that produces iron overload:

1. Certain forms of anemia, such as thalassemias and sideroblastic anemia

2. Atransferrinemia and aceruloplasminemia—both are rare, inherited diseases

3. Chronic liver diseases, such as chronic hepatitis C infection, alcoholic liver disease, or nonalcoholic. steatohepatitis

(Alcohol use can make worse liver damage and cirrhosis produced by hemochromatosis).

Other factors also can produce secondary hemochromatosis, such as: