June 19, 2025 • 10 mins
Fanconi Anaemia: What is it? What are the symptoms? How is it Inherited? In this episode, we will explore the history of fanconi anaemia, the cause of this condition, and how it is diagnosed.
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Resources:
Kidz 1st Fund (US): https://www.kidz1stfund.com/
Fanconi Cancer Foundation (International): https://fanconi.org/
Fanconi Hope (UK): https://fanconihope.org/
Fanconi Anaemia Support Australasia: https://fasa.org.au/
References:
https://emedicine.medscape.com/article/960401-overview
https://pmc.ncbi.nlm.nih.gov/articles/PMC4815723/
https://www.stjude.org/care-treatment/treatment/blood-disorders/fanconi-anemia.html
https://my.clevelandclinic.org/health/diseases/14473-fanconi-anemia-fa
https://www.cincinnatichildrens.org/health/f/fanconi-anemia
https://medlineplus.gov/genetics/condition/fanconi-anemia/#inheritance
*This podcast is for entertainment purposes only. If you suspect you have a medical condition, please seek out an opinion of a medical professional.*
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Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
(00:00):
Your son Ryan has always been on the small side. Lately, you have noticed that he looks
(00:04):
incredibly pale. You also notice that he's been getting a lot of nosebleeds and seems to be
getting really sick frequently. You are helping him get ready for school when you notice several
bruises on him. Rather concerned about all of these symptoms, you decide to take him to a
pediatrician. Hello and Welcome to Anatomy Of Illness. Today's episode is about Fanconi Anemia.
(00:38):
Before we get into the condition, we are going to start with the history. So why do we know
Fanconi Anemia exists? We begin almost 100 years ago in 1927 with the Swiss pediatrician Guido
Fanconi. No prizes for guessing where the name came from. He would report on a condition he
called familial infantile anemia. At this time, he first reported the cases of three brothers.
(01:00):
These boys had physical abnormalities, abnormally large red blood cells, this is also known as
macrocytosis and pancytopenia. This is not enough blood cells in the blood, all three types of blood
cells. So platelets, red blood cells and white blood cells. Eventually in the early 1960s,
they found that the cells of those with Fanconi Anemia would have increased numbers of chromosome
(01:23):
breaks when compared with those without Fanconi Anemia. With this finding, those who do not have
an evident physical abnormality were able to be diagnosed with Fanconi Anemia as it has helped
with the diagnostic process. This leads us to today. Yes, the history of this condition is short.
However, in that short time, we learned what causes the condition. So what actually causes
(01:44):
Fanconi Anemia? Fanconi Anemia is a condition caused by genetic mutations. There are actually
20 genes that can cause Fanconi Anemia. In up to 90% of cases of Fanconi Anemia, it will occur
in three genes. These are the FANCA gene, the FANCC gene and the FANCG gene. In most cases,
(02:04):
Fanconi Anemia is inherited in an autosomal recessive pattern. So this is when both parents
carry an affected chromosome, but they themselves do not show symptoms. The child needs to get two
copies of the faulty gene from their parents to have the condition. However, in rare cases,
there is a type of Fanconi Anemia that is inherited in an X-linked pattern. But what does this mean?
(02:25):
Well, essentially, boys only need one copy of the gene as they only have one X chromosome,
whereas girls need two copies of the gene as they have two X chromosomes. How does Fanconi
Anemia affect the body? Fanconi Anemia affects the bone marrow among many other parts of the body.
The bone marrow in Fanconi Anemia does not produce healthy blood cells and platelets.
(02:46):
Who does Fanconi Anemia more commonly affect? Fanconi Anemia is a rare condition. It affects
between 1 in 100,000 people to 1 in 160,000 people. Fanconi Anemia also affects boys and
girls equally, and it affects all races and ethnicities. It is most often diagnosed between
birth and 10 to 15 years of age. However, some people with the condition are diagnosed
(03:10):
at a later age. This is normally when another condition has come up that is related to Fanconi
Anemia. What is the lifespan for those with Fanconi Anemia? The average lifespan for those
with this condition is between 20 to 30 years of age. This is due to the high risk of severe
aplastic anemia, cancer, and bone marrow failure. Aplastic anemia is a condition when the bone
(03:32):
marrow stops producing enough new blood cells. How do we test for Fanconi Anemia? When it comes
to Fanconi Anemia, people with this condition often present with related conditions before
getting a Fanconi Anemia diagnosis. This could be various things like physical abnormalities,
cancer, or progressive bone marrow failure. So when it comes to assessing for Fanconi Anemia,
a doctor will first do a physical assessment looking for any abnormalities or anomalies. So
(03:56):
this may be cafe au lait spots, abnormalities with the fingers, or other limb defects. After this,
doctors will request several other tests. These include a complete blood count. This is a blood
test that is used to evaluate the health of blood cells and their activity. Another blood test they
may run is a basic metabolic panel. This test provides information about the body's chemical
balance and the metabolism. They may also run a reticulocyte count. This is checking how many
(04:21):
immature red blood cells there are in the blood. It gives an indication on how well the bone marrow
is replacing the old red blood cells. Other tests they may run outside of blood tests are bone
marrow biopsies. This helps to identify if there are any issues with the bone marrow and helps us
to diagnose if there are certain diseases going on. Other tests like genetic testing can be done
to find out which specific gene is causing the condition and also other tests like imaging can
(04:44):
be done to check for internal abnormalities or potential cancers as both occur with
Fanconi Anemia. We'll get right into the symptoms and presentation right after this little break.
This podcast is supported by listeners like you on Buy Me a Coffee. What symptoms might you have
(05:11):
if you had Fanconi Anemia? When it comes to Fanconi Anemia there are normally symptoms that occur
before the age of 12. The early symptoms for this condition include feeling tired or feeling dizzy,
having headaches, chest pain and shortness of breath, easy bruising, nose bleeds, pale skin
and frequent infections. When it comes to Fanconi Anemia 60% of children are also born with at least
(05:32):
one of these symptoms. Smaller than average body size, delayed growth, short height, small head
size, low birth weight, extra misshapen underdeveloped or even missing body parts,
dark or light coloured skin patches, these are known as cafe or lathe patches, ear and eye defects,
kidney problems, heart defects, gastrointestinal issues, so issues with the stomach and intestines,
(05:54):
internal bleeding and learning difficulties. What should a doctor be aware of when it comes
to Fanconi Anemia? When it comes to Fanconi Anemia a doctor should be aware of several things. These
include bone marrow failure. In around 90% of cases of Fanconi Anemia people experience either
bone marrow failure or a lack of bone marrow function. Essentially this means that bone marrow
does not make enough healthy red blood cells or blood cells in general. This can lead to other
(06:18):
blood disorders like aplastic anemia and myelodysplastic syndrome. This is a form of pre-leukemia.
Speaking of leukemia in 10 to 30% of cases of Fanconi Anemia people will go on to develop
various forms of cancer including leukemia. When it comes to Fanconi Anemia only certain cancers
have an increased risk of occurring. These include leukemia, head and neck cancer, these are cancers
(06:41):
that relate to the mouth, tongue and throat, gynecological cancers, these types of cancers
include labial, anogenital and cervical cancers, gastrointestinal cancers, especially liver cancer,
medulloblastomas which are a type of brain cancer among other forms of cancer. This will also depend
on the mutation causing the Fanconi Anemia. As to what cancers are more common like for those who
(07:03):
have the BRCA2 mutation they all have an increased risk of breast cancer which we covered in episode
13. In 75% of cases of Fanconi Anemia people with the condition will have some form of physical
abnormalities. This can either be external in appearance or affecting the internal organs.
How do we treat Fanconi Anemia? Well treatment in the case of Fanconi Anemia is often more focused
(07:26):
on treating the disorders it can cause. Examples of treatments that can be used in the cases of
Fanconi Anemia with the disorders it can cause include androgen therapy. This treatment stimulates
red blood cell production that is used if you have anemia. Synthetic growth factors, this is used to
stimulate the bone marrow to make more red blood cells and white blood cells. Bone marrow transplant,
(07:47):
this is done in cases where someone has developed bone marrow failure, pre-leukemia or leukemia.
It replaces their bone marrow often with a matching donor to provide a healthy source for blood cells.
Surgery, this is done to correct any physical abnormalities that were caused by Fanconi Anemia.
Are there any famous people with Fanconi Anemia? Interestingly enough two famous American football
(08:07):
coaches have kids with Fanconi Anemia. These coaches are Jimbo Fisher and Mike London. Fisher
and his wife actually started the Kidz 1st Fund. This foundation raises awareness, provides
education and even raises money for research into Fanconi Anemia. If you would like to watch a short
video I recommend watching Emma's story from the Boston Children's Hospital. In this they go into
(08:28):
a little about her symptoms before Emma was diagnosed that hinted that she may have an
illness. They also in this video go over some of the concerns surrounding Fanconi Anemia and also
a little bit more information on the condition. I definitely recommend this if you want to learn
more about this condition. If you would like to check out a foundation for this condition there
is the Fanconi Cancer Foundation. This is a global foundation that funds research into
(08:51):
Fanconi Anemia. It provides education and support for those currently experiencing the condition
hoping that a cure for Fanconi Anemia will one day be found. For those in the UK there is Fanconi
Hope. They encourage research into Fanconi Anemia including supporting a national registry for those
with the condition. They also promote awareness of Fanconi Anemia. For those in Australia and New
(09:13):
Zealand there is Fanconi Anemia Support Australasia. They provide assistance to those with Fanconi
Anemia, support scientific research into Fanconi Anemia and raise awareness of the condition. If
you want to check out the sources, social media links or any other links you can head to anatomyofillness.com
If you enjoyed this episode and would like to hear more subscribe to be notified
about our latest episodes. If you would like to join our community you can join us on Discord or
(09:34):
Instagram otherwise stick around for the next episode. Did you know that the red blood cells
are quite different to all the other cells in the body? They are missing the nuclei. This allows them
(09:57):
to make more room for oxygen but because of this they do not have the ability to divide or create
new cellular components.
Your son Ryan has always been on the small side. Lately, you have noticed that he looks
(00:04):
incredibly pale. You also notice that he's been getting a lot of nosebleeds and seems to be
getting really sick frequently. You are helping him get ready for school when you notice several
bruises on him. Rather concerned about all of these symptoms, you decide to take him to a
pediatrician. Hello and Welcome to Anatomy Of Illness. Today's episode is about Fanconi Anemia.
(00:38):
Before we get into the condition, we are going to start with the history. So why do we know
Fanconi Anemia exists? We begin almost 100 years ago in 1927 with the Swiss pediatrician Guido
Fanconi. No prizes for guessing where the name came from. He would report on a condition he
called familial infantile anemia. At this time, he first reported the cases of three brothers.
(01:00):
These boys had physical abnormalities, abnormally large red blood cells, this is also known as
macrocytosis and pancytopenia. This is not enough blood cells in the blood, all three types of blood
cells. So platelets, red blood cells and white blood cells. Eventually in the early 1960s,
they found that the cells of those with Fanconi Anemia would have increased numbers of chromosome
(01:23):
breaks when compared with those without Fanconi Anemia. With this finding, those who do not have
an evident physical abnormality were able to be diagnosed with Fanconi Anemia as it has helped
with the diagnostic process. This leads us to today. Yes, the history of this condition is short.
However, in that short time, we learned what causes the condition. So what actually causes
(01:44):
Fanconi Anemia? Fanconi Anemia is a condition caused by genetic mutations. There are actually
20 genes that can cause Fanconi Anemia. In up to 90% of cases of Fanconi Anemia, it will occur
in three genes. These are the FANCA gene, the FANCC gene and the FANCG gene. In most cases,
(02:04):
Fanconi Anemia is inherited in an autosomal recessive pattern. So this is when both parents
carry an affected chromosome, but they themselves do not show symptoms. The child needs to get two
copies of the faulty gene from their parents to have the condition. However, in rare cases,
there is a type of Fanconi Anemia that is inherited in an X-linked pattern. But what does this mean?
(02:25):
Well, essentially, boys only need one copy of the gene as they only have one X chromosome,
whereas girls need two copies of the gene as they have two X chromosomes. How does Fanconi
Anemia affect the body? Fanconi Anemia affects the bone marrow among many other parts of the body.
The bone marrow in Fanconi Anemia does not produce healthy blood cells and platelets.
(02:46):
Who does Fanconi Anemia more commonly affect? Fanconi Anemia is a rare condition. It affects
between 1 in 100,000 people to 1 in 160,000 people. Fanconi Anemia also affects boys and
girls equally, and it affects all races and ethnicities. It is most often diagnosed between
birth and 10 to 15 years of age. However, some people with the condition are diagnosed
(03:10):
at a later age. This is normally when another condition has come up that is related to Fanconi
Anemia. What is the lifespan for those with Fanconi Anemia? The average lifespan for those
with this condition is between 20 to 30 years of age. This is due to the high risk of severe
aplastic anemia, cancer, and bone marrow failure. Aplastic anemia is a condition when the bone
(03:32):
marrow stops producing enough new blood cells. How do we test for Fanconi Anemia? When it comes
to Fanconi Anemia, people with this condition often present with related conditions before
getting a Fanconi Anemia diagnosis. This could be various things like physical abnormalities,
cancer, or progressive bone marrow failure. So when it comes to assessing for Fanconi Anemia,
a doctor will first do a physical assessment looking for any abnormalities or anomalies. So
(03:56):
this may be cafe au lait spots, abnormalities with the fingers, or other limb defects. After this,
doctors will request several other tests. These include a complete blood count. This is a blood
test that is used to evaluate the health of blood cells and their activity. Another blood test they
may run is a basic metabolic panel. This test provides information about the body's chemical
balance and the metabolism. They may also run a reticulocyte count. This is checking how many
(04:21):
immature red blood cells there are in the blood. It gives an indication on how well the bone marrow
is replacing the old red blood cells. Other tests they may run outside of blood tests are bone
marrow biopsies. This helps to identify if there are any issues with the bone marrow and helps us
to diagnose if there are certain diseases going on. Other tests like genetic testing can be done
to find out which specific gene is causing the condition and also other tests like imaging can
(04:44):
be done to check for internal abnormalities or potential cancers as both occur with
Fanconi Anemia. We'll get right into the symptoms and presentation right after this little break.
This podcast is supported by listeners like you on Buy Me a Coffee. What symptoms might you have
(05:11):
if you had Fanconi Anemia? When it comes to Fanconi Anemia there are normally symptoms that occur
before the age of 12. The early symptoms for this condition include feeling tired or feeling dizzy,
having headaches, chest pain and shortness of breath, easy bruising, nose bleeds, pale skin
and frequent infections. When it comes to Fanconi Anemia 60% of children are also born with at least
(05:32):
one of these symptoms. Smaller than average body size, delayed growth, short height, small head
size, low birth weight, extra misshapen underdeveloped or even missing body parts,
dark or light coloured skin patches, these are known as cafe or lathe patches, ear and eye defects,
kidney problems, heart defects, gastrointestinal issues, so issues with the stomach and intestines,
(05:54):
internal bleeding and learning difficulties. What should a doctor be aware of when it comes
to Fanconi Anemia? When it comes to Fanconi Anemia a doctor should be aware of several things. These
include bone marrow failure. In around 90% of cases of Fanconi Anemia people experience either
bone marrow failure or a lack of bone marrow function. Essentially this means that bone marrow
does not make enough healthy red blood cells or blood cells in general. This can lead to other
(06:18):
blood disorders like aplastic anemia and myelodysplastic syndrome. This is a form of pre-leukemia.
Speaking of leukemia in 10 to 30% of cases of Fanconi Anemia people will go on to develop
various forms of cancer including leukemia. When it comes to Fanconi Anemia only certain cancers
have an increased risk of occurring. These include leukemia, head and neck cancer, these are cancers
(06:41):
that relate to the mouth, tongue and throat, gynecological cancers, these types of cancers
include labial, anogenital and cervical cancers, gastrointestinal cancers, especially liver cancer,
medulloblastomas which are a type of brain cancer among other forms of cancer. This will also depend
on the mutation causing the Fanconi Anemia. As to what cancers are more common like for those who
(07:03):
have the BRCA2 mutation they all have an increased risk of breast cancer which we covered in episode
13. In 75% of cases of Fanconi Anemia people with the condition will have some form of physical
abnormalities. This can either be external in appearance or affecting the internal organs.
How do we treat Fanconi Anemia? Well treatment in the case of Fanconi Anemia is often more focused
(07:26):
on treating the disorders it can cause. Examples of treatments that can be used in the cases of
Fanconi Anemia with the disorders it can cause include androgen therapy. This treatment stimulates
red blood cell production that is used if you have anemia. Synthetic growth factors, this is used to
stimulate the bone marrow to make more red blood cells and white blood cells. Bone marrow transplant,
(07:47):
this is done in cases where someone has developed bone marrow failure, pre-leukemia or leukemia.
It replaces their bone marrow often with a matching donor to provide a healthy source for blood cells.
Surgery, this is done to correct any physical abnormalities that were caused by Fanconi Anemia.
Are there any famous people with Fanconi Anemia? Interestingly enough two famous American football
(08:07):
coaches have kids with Fanconi Anemia. These coaches are Jimbo Fisher and Mike London. Fisher
and his wife actually started the Kidz 1st Fund. This foundation raises awareness, provides
education and even raises money for research into Fanconi Anemia. If you would like to watch a short
video I recommend watching Emma's story from the Boston Children's Hospital. In this they go into
(08:28):
a little about her symptoms before Emma was diagnosed that hinted that she may have an
illness. They also in this video go over some of the concerns surrounding Fanconi Anemia and also
a little bit more information on the condition. I definitely recommend this if you want to learn
more about this condition. If you would like to check out a foundation for this condition there
is the Fanconi Cancer Foundation. This is a global foundation that funds research into
(08:51):
Fanconi Anemia. It provides education and support for those currently experiencing the condition
hoping that a cure for Fanconi Anemia will one day be found. For those in the UK there is Fanconi
Hope. They encourage research into Fanconi Anemia including supporting a national registry for those
with the condition. They also promote awareness of Fanconi Anemia. For those in Australia and New
(09:13):
Zealand there is Fanconi Anemia Support Australasia. They provide assistance to those with Fanconi
Anemia, support scientific research into Fanconi Anemia and raise awareness of the condition. If
you want to check out the sources, social media links or any other links you can head to anatomyofillness.com
If you enjoyed this episode and would like to hear more subscribe to be notified
about our latest episodes. If you would like to join our community you can join us on Discord or
(09:34):
Instagram otherwise stick around for the next episode. Did you know that the red blood cells
are quite different to all the other cells in the body? They are missing the nuclei. This allows them
(09:57):
to make more room for oxygen but because of this they do not have the ability to divide or create
new cellular components.
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