Kenneth Kee

Fanconi Anemia, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions (eBook, ePUB)

• Format: ePub

Produktbeschreibung

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 ...

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Produktdetails

• Verlag: Kenneth Kee
• Erscheinungstermin: 23. Juni 2017
• Englisch
• ISBN-13: 9781370008391
• Artikelnr.: 48738768

Autorenporträt

Dr. Kenneth Kee is a well-known medical doctor from Singapore who has been practicing medicine since 1972.
He graduated from the University of Singapore and furthered his studies with a Master of Science in Health Management in 1991, followed by a Ph.D. in Healthcare Administration in 1993.
Dr. Kee established Kee Clinic in 1974, located in the Holland Drive area of Singapore. The clinic has been a prominent feature of the community, offering general medical services for 5 decades.
Dr Kee also served his country Singapore as a national service police Inspector at night from 1975 to 1985 while working at his clinic during the day.
He had served as a police guard to the Woodland Petroleum Tanks at night during the Indonesian Confrontation period, took part in police rounds at night in the Beach Road area and taught First aid and emergency resuscitation to Police recruits.
He received the Singapore Police Bicentennial 2020 Medallion on 1st March 2024 as recognition for his work in the Singapore Police.
Even as he grew older, Dr. Kee continued to work actively in his clinic, although he eventually reduced his consultation hours.
Beyond his medical career, Dr. Kee is also an author.
He started writing about medical conditions in 2007, using blogs and other online platforms to share his knowledge with a broader audience.
Over time, he published various books, many of which provide simple and accessible guides to different health conditions.
His works include "A Family Doctor's Tale," "My Personal Singapore History," and numerous medical guides, available through platforms like Amazon.
His books often combine his personal experiences as a family doctor with insights into Singapore's healthcare system and history.
Dr. Kee has written extensively on health topics, contributing to both medical literature and general knowledge resources.

Dr. Kenneth Kee has written numerous books, primarily focused on health education and personal experiences as a family doctor. Some of his notable titles include:
"A Family Doctor's Tale"
This book is a blend of Dr. Kee's personal experiences and his reflections on being a family doctor in Singapore. It's a great choice if you're looking for a narrative that combines both medical knowledge and human stories.
"Specialized Medical Conditions"
Books like **"Congestive Heart Failure: Diagnosis and Treatment"** focus on specific conditions, offering in-dept...