Fanconi Anemia, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

By Kenneth Kee

Fanconi anemia is an inherited disorder that mainly affects the bone marrow.
It leads to decreased production of all types of blood cells.
Fanconi anemia (FA) is a genetic disorder that eventually leads to bone marrow failure.
The bone marrow is responsible for making 3 different types of blood cells in the body.
These are red blood cells, which bring oxygen to the tissues and organs, white blood cells, which fight infections, and platelets, which promote blood clotting to stop bleeding.
It is normal for the blood cells to die.
If the bone marrow is not replacing dead blood cells, the person will have bone marrow failure
FA is a very severe disease and has permanent complications, which may be:
1.Anemia
2.Birth Defects of bone, eye, ear, skin, kidney and heart
3.Cancer especially leukemia and mouth cancers
FA is a recessive gene disorder.
This indicates the parents both have to have the defective FA gene for a person to develop FA
Abnormalities in those 19 genes are responsible for 95 % of FA cases.
It is the most frequent of a group of relatively rare diseases called the inherited bone marrow failure syndromes (IBMFS).
The disorder is most often diagnosed in children between 2 and 15 years old.
When a person does not have a sufficient number of blood cells he or she will begin to experience:
1. Aplastic Anemia
The symptoms of anemia are:
a. Dizziness,
b. Headaches, and
c. An inability to keep the hands and feet warm.
2. Birth Defects
Certain types of birth defects will indicate that the infant has FA, such as:
a. Bone defects, especially involving the thumbs and arms
b. Eye and ear defects
c. Skin discoloration
d. Kidney problems
e. Congenital heart defects
3. Developmental Problems
Developmental problems can be:
a. Low birth weight
b. Poor appetite
c. Delayed growth
d. A smaller-than-normal height
e. A smaller-than-normal head size
f. Intellectual disability
Symptoms in Adults
Adults who are diagnosed later in life will normally have a completely different set of symptoms.
The symptoms in adults will normally involve the sexual organs or the reproductive system.
The symptoms in women are:
1. Periods that occur later than normal
2. Fertility issues
3. Frequent miscarriages
4. Early menopause
5. Smaller-than-normal genitals
Men with FA may have:
1. Fertility issues and
2. Smaller-than-normal genitals.
People with Fanconi anemia have less numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot).
Not enough white blood cells can result in infections.
A lack of red blood (anemia) cells may result in fatigue.
The lesser amount of platelets may lead to excessive bleeding.
Women who have a family history of FA should have genetic testing of their unborn baby.
This can be done through amniocentesis and chorionic villus sampling (CVS).
Chromosome breakage studies can also be done using CVS.
If the child tests positive for the FA gene, they will be monitored for other signs of the disorder.
Bone marrow biopsy or aspiration shows progressively hypo-cellular marrow with loss of myeloid and erythroid precursors and megakaryocytes, ultimately becoming typical of aplastic anemia
Full blood count (FBC) may show macrocytosis with mild anemia through to pan-cytopenia.
Initial presentation may be with isolated thrombocytopenia or leucopenia
The symptoms of FA can be treated but there is no cure for FA.
People with mild to moderate blood cell changes do not need a transfusion
Medicines called growth factors (such as erythropoietin, G-CSF, and GM-CSF) can improve blood counts
A bone marrow transplant can cure blood count of FA
Most people respond to hormone therapy.

TABLE OF CONTENT
Introduction
Chapter 1 Fanconi Anemia
Chapter 2 Causes

• Language: English
• Publisher: Kenneth Kee
• Release date: Jun 23, 2017
• ISBN: 9781370008391

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

Fanconi Anemia,

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 Fanconi Anemia, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

(What The patient Need to Treat Fanconi Anemia)

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

Fanconi Anemia

What Is Fanconi Anemia?

Fanconi anemia is a medical disorder passed down through families (inherited) that mainly involves the bone marrow.

It leads to reduced production of all types of blood cells.

Fanconi anemia is not the same as Fanconi syndrome, a rare kidney disorder.

It is the most frequent of a group of comparatively rare diseases known as the inherited bone marrow failure syndromes (IBMFS).

It is inherited in an autosomal recessive manner apart from one gene (FANCB) which is present on the X chromosome