Fanconi anemia

Premature birth oximeter

Last Updated December 20th, 2021

What is Fanconi anemia ?

Fanconi anemia is a serious blood disorder that is characterized by the inability of the bone marrow to make enough new blood cells.  More than 50% of the people diagnosed with this disease get it before the age of 10. This disease is more common in people who have birth defects such as brachydactyly, skin pigmentation defects, microcephaly, microphthalmia and abnormal kidney structures.

This condition often results in the progressive deficiency of red blood cells, white blood cells, and platelets. People with this condition are also at an increased risk of developing bone marrow cancer. Fanconi anemia is equally prevalent in both men and women and in all ethnic groups.

Causes

MYELODYSPLASTIC SYNDROMES bloodFanconi anemia is a genetic disorder that is inherited. If there are mutations in at least 18 genes, the occurrence of this condition is high. The chromosomes of people affected by this condition are not able to repair the damaged DNA. Hence they break and rearrange easily leading to chromosome instability.

The majority of the Fanconi anemia cases happen due to mutations in one of these genes, FANCA, FANCC, and FANCG. These genes are responsible for providing instructions for the production of blood cells. Sometimes, the mutation of these genes may also lead to uncontrolled cell growth, which results in cancer.

Autosomal Recessive

This condition is mostly inherited in an autosomal recessive manner. If a person only has one abnormal gene of Fanconi anemia, he/she becomes a carrier, with no apparent symptoms. However, if a person gets 2 abnormal genes, one from each parent, then he/she gets affected by this condition.

If both the parents have the mutated gene related to this condition, the risk of it being passed on to their child (both male and female) is 25%. The risk of the child becoming a carrier is 50%. Lastly, the chance of the child not getting the disorder at all is 25%.  If the parents are consanguineous (close relatives), there is a higher chance of their child having and a recessive genetic disorder like Fanconi anemia.

This disorder can also be inherited if there are mutations in the following genes, BRCA2, BRIP1, FANCB, FANCD2, FANCE, FANCF, FANCI, ERCC4, FANCL, FANCM, PALB2, RAD51C, SLX4, and UBE2T.

The mutation of the FANCB gene mostly affects males as it is located in the X chromosome. Females with X-linked recessive trait are usually carriers as they have two X chromosomes. Males have only 1 one X chromosome that is inherited from the mother (fathers pass on the Y genes to males). If the male receives the X chromosome with the altered gene, he will develop this disorder.

Female and male carriers of the disease

Genetic Disorder_sickle cellFemale carriers of an X-linked disorder have a 25% chance (with each pregnancy) of producing a carrier daughter, 25% chance of producing a non-carrier daughter, 25% chance of producing a son who will be affected by the disease and 25% chance of producing an unaffected son.

Meanwhile, if a male with an X-linked disorder reproduces, he will pass on the abnormal gene to all his daughters. He will not be able to pass on the disorder to his son as males only pass on the X chromosome to their daughters.

Lastly, this condition can also be inherited in an autosomal dominant manner. This happens when there are mutations in the RAD51 gene. In dominant genetic disorders, only a single abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or result from a new mutation in the patient. The risk of passing the mutated gene from parent to offspring is 50% in both males and females. People who develop FA due to a mutated RAD51 gene usually have a mutation that occurs in the egg or the sperm. In this instance, FA is not inherited from the parents.

Symptoms

The symptoms of Fanconi anemia are different from person to person. However, it is often characterized by a variety of physical abnormalities, which reveal themselves in early childhood. Some of the symptoms of Fanconi anemia are

  • Low birth weight
  • Gastrointestinal difficulties
  • Skin pigmentation
  • Small reproductive organs in males
  • Short stature
  • Kidney structural problems
  • Thumb and arm anomalies
  • Defects in tissues separating chambers of the heart
  • Small head
  • Small, crossed, or widely spaced eyes

Blood problems start once the individual reaches 6-8 years and they may start experiencing

  • Anemia
  • Tiredness
  • Sleepiness
  • Weakness
  • Lightheadedness
  • Dizziness
  • Irritability
  • Headaches
  • Pale skin color
  • Difficulty breathing
  • Cardiac symptoms

The more serious symptoms of this disorder are bone marrow failure and an increased risk of developing cancer.

Bone Marrow Failure

Bone marrow is a semi-solid tissue that is found inside the spongy portions of long bones. The main function of the bone marrow is to produce hematopoietic stem cells that eventually become platelets, erythrocytes (red blood cells) and leukocytes (white blood cells).

Progressive bone marrow failure usually happens before the age of 10. It is characterized by low platelet levels or low white blood cells.

Cancer

People who have Fanconi anemia are at an increased risk of developing certain cancers (acute myeloid leukemia and specific solid tumors)as compared to the general population. Fanconi anemia mainly causes cancer that affects the head and neck region, gastrointestinal tract, esophagus or gynecologic regions.

Who should be tested?

Premature birth oximeterAny infant born with the thumb and arm abnormalities should be tested for FA. Any person who develops aplastic anemia (a conditionwhich results in your body not producing enough new blood cells) at any age should also be tested for FA. People (especially those without a history of tobacco or alcohol use), who develop squamous cell carcinoma of the head neck, gastrointestinal or gynecologic system should also be tested. This is because chemotherapy and radiation may have an adverse effect on FA patients.

Diagnosis

This condition is usually diagnosed by a combination of methods that may include

Clinical evaluation

Although Fanconi anemia patients can be identified with certain physical abnormalities such as small head, deformed thumb, skin pigmentation, the doctors may order the following test to be certain

  • Ultrasonography of the kidneys and urinary tract
  • Hearing test
  • Developmental assessment (especially for toddlers and school-age children)
  • Evaluation by a hematologist
  • Full blood typing
  • HLA typing of the affected individual, siblings, and parents for consideration of hematopoietic stem cell transplantation
  • Blood chemistries
  • Bone marrow aspiration

Specialized tests

Chromosome breakage test

The widely used test for diagnosing FA is called a chromosome breakage test, which involves treating some of the patient’s blood cells in a test tube with a chemical that crosslinks DNA. DEB (diepoxybutane) and MMC (mitomycin C) are the two chemicals that are commonly used for this test. When the cells come in contact with these chemicals, the DNA breaks up. Normal cells are able to correct most of the damage but cells affected with FA display chromosome breakage. These tests can also be performed prenatally by obtaining cells from the amniotic fluid or the chorionic villi.

Molecular genetic testing

Molecular genetic testing can be done for all 18 genes that are related to FA. Firstly, a complementation test is done to identify why the gene is mutated. Once identified, sequence analysis of the gene is done to determine the specific mutation in that particular gene. If the mutation is not identified, deletion/duplication analysis has to be done for the genes associated with FA.

Treatment

The treatment of FA is done depending on the symptoms of the condition in each patient. Treatment plans usually require coordinated efforts by pediatricians, surgeons, cardiologists, kidney specialists (nephrologists), urologists, gastroenterologists, etc. These are some of the most common treatment methods for FA patients

Androgen administration

The administration of androgens (male hormones) is known to improve the blood count in approximately half of the patients diagnosed with FA. The first signs of this treatment plan will see the increase in hemoglobin, generally after a couple of months following treatment. The red blood cells count also improves. However, it takes time for the white blood cells and platelet count to improve. Also, the body builds resistance to this treatment after a while.

Hematopoietic growth factors

This therapy involves the administration of glycoprotein, a compound that stimulates the bone marrow to produce more granulocytes and stem cells. This improves the white blood cells (mainly neutrophil) count in some individuals. This therapy’s main side effect is that the patient may develop a skin condition called Sweet’s syndrome.

Hematopoietic stem cell transplantation

This therapy involves the transplantation of donor stem cells (preferably from a close relative) obtained from bone marrow, peripheral blood, or cord blood. The stem cells automatically increase the blood count in patients. HSCT remains the only curative treatment for patients with Fanconi anemia.

Surgery

Surgery is sometimes needed to correct the skeletal malformations associated with this disease.

Prevention

This condition cannot be prevented but people with a family history of this disease can undergo genetic counseling before planning to have a baby to understand the risks better. Pregnant women, who have a family history of this disease, should also do a genetic test to determine whether the baby has FA. This can be done via two procedures

Amniocentesis: In this procedure, the doctor uses a needle to remove some amniotic fluid, which is then tested for FA genes.

Chorionic villus sampling: This is done by inserting a tube through the vagina to take tissue samples of the placenta. The samples are then tested for FA genes.

If the baby is tested positive, the doctor will run more tests to determine the severity of the disease. If the disease is too severe, the couple may opt to undergo an abortion.

 

Dos and Don'ts

Dos
  • You should be careful not to injure yourself
  • You should get your blood count tests done regularly
  • You should undergo a genetic counseling session if you are planning to have a baby
Don'ts
  • Drink or smoke cigarettes. Nicotine and alcohol may increase the risk of chromosomal breakage in individuals with FA.
  • Feel low if you have FA. Improvements in blood and bone marrow stem cell transplants have greatly involved the survival rates of people living with this condition.
  • Play contact sports as you may get injured. People with FA should not risk injury as their blood might not clot due to low platelet count.

 

 

 

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6 arguments in favour of glucosamine and where can you find it Studies have shown that glucosamine works by preventing the breakdown of cartilage of the joints. This is usually…
Barium-enema
Barium Enema Barium enema is also known as colon x-ray. Here, the patient is asked to consume small amount of…
lipoprotein A
Lipoprotein (A) Test Lipoprotein (A) test is used to measure and monitor the levels of LDL(Low-Density Lipoprotein) in the bloodstream in…
Ca 19.9 test
CA19.9 Test CA 19.9 is a cancer antigen that exists on the surface of cancer-causing cells. The levels of CA…
apolipoprotein a1 test
Apolipoprotein -A1 (APO-A1) Test Apolipoprotein A-I (Apo-A1) constitutes 70% of protein content in high-density lipoprotein (HDL) and helps in lipid metabolism.
High Fiber Diet – Fire up your fiber intake for these health benefits! Regular bowels, healthy detox, higher immunity, and guaranteed weight loss - a high fiber diet can bring all…
CERULOPLASMIN- triple marker
Triple Marker Test A triple marker test is an important prenatal test that is performed to detect the presence of chromosomal…
EMG electromyography
EMG- Electromyography EMG detects the presence, location, and extent of diseases that damage the nerves such motor neuron disease. Electromyography…
Vitamin b12
Vitamin B12 Test Vitamin b12 is an essential nutrient required for healthy functioning of the nervous system and also development of…
Hibiscus: Nourish your beauty and health with these vibrant blooms Hibiscus is a trumpet shaped flower found abundantly in tropical countries. It has been historically used for its…
Helicobacter pylori IGA
Helicobacter Pylori – IgA Test The H.pylori IgA test is a blood test used to identify the level of IgA antigen in the…
Goji berry: A traditional Chinese berry that packs the best of antioxidants Goji berry is an ancient berry that is considered to be power-packed with nutrients and antioxidants. Which means…
amylase test
Amylase Test Amylase test is done by checking the level of this protein in the blood sample and also in…
ureteroscopy
Ureteroscopy Ureteroscopy is the diagnostic procedure which is used for the detection of the kidney stones in addition to…
Spinach: The ultimate way to boost health with this green superfood! Spinach is a green superfood that ranks high in both taste and nutrition. Read more to discover how…
Top 6 remedies to treat a razor burn at home Symptoms of razor burn include bumps on the skin, redness, and irritation of the skin. Find easy and…
hYdroxycut pills
Hydroxycut: How safe are these so-called weight loss supplements? Hydroxycut is a blend of several different ingredients formulated to promote weight loss; powered by a key weight…
top 10 deadliest diseases
What are the top 10 deadliest diseases and what is causing them? What are the largest killers of human lives across the globe? Which diseases are the most fatal ones?…
kefir bottle
Kefir: Top reasons why this probiotic drink should be consumed by you Yet another remarkable fermented food, kefir is a much healthier version of yogurt. These chewy white grains can…
Oil of Oregano: The one-stop essential oil you’ve been looking for Are you plagued by a weak immune system? High body inflammation accompanied by pain and infections? Why not…
Period sanitary napkin-menstruaion-blood-colors
Period blood – what it says about your health Your period blood color and consistency indicate what is happening in your body. Is your blood bright red…
malarial antigen test
Malaria Antigen Test A malaria antigen test is a rapid diagnostic test (RDT) that can detect malarial antigens (proteins) in your…
Fibromyalgia fatigue
HCG Diet: The dangers of using this diet to lose weight HCG is a natural hormone produced by both men and women that corresponds to fertility. But how is…
How to correctly perform nasal irrigation using a Neti Pot? Neti pot has been a part of Ayurveda since centuries. This ancient tool is extremely effective in treating…
Balneotherapy jacuzzi
5 things you didn’t know about balneotherapy and how you can do it at home Sauna baths have been popular since a long time. But how much more beneficial can balneotherapy be as…
alcohol toxic
7 startling facts that will make you quit alcohol today Does drinking really make you friendly and happy? How many calories does a can of cold beer add…
cytomegalovirus iGG
Cytomegalovirus (CMV)- IgG Test The cytomegalovirus IgG is the immunoglobulin protein produced by our immune system when the body is infected by…
Milk Thistle skin
Milk Thistle: Find possible cures for fatal diseases in these purple blooms Milk thistle is well-known for treating liver conditions. However, did you know that it comes with a plethora…
Turner syndrome and infertility
Infertility profile (women) The infertility profile tests in women are conducted to form a complete picture of the hormonal balance and…
shakeology woman
Meal replacement or protein drink? Learn all about Shakeology and its claims Shakeology from Beachbody claims to be the most suitable shake that can aid in weight loss, regulate blood…
Diabetes blood test
Diabetic Profile The diabetic profile is a set of tests used for testing and monitoring the various kinds of Diabetes…
Bronchoscopy procedure
Bronchoscopy Bronchoscopy is a procedure where in a scope is inserted into the lung pathway to observe any growth…
anoscopy
Anoscopy Anoscopy is an invasive diagnostic procedure where a small device known as anoscope will be inserted in the…
Keto diet healthy
Keto Diet: Did you know you could eat fats to burn fats? Keto diet - A wonder diet that lets you eat fats and lose weight too! Read on to…
Echocardiogram
Echocardiography – ECHO Echocardiography (commonly known as ECHO) is an imaging modality (similar to ultrasonography) used to visualize the interior of…
creatinine
Creatinine Test The level of creatinine in the blood is a significant indicator of the health of your kidneys. This…
Kava: Is it the healthy substitute for alcohol you have been waiting for? Native to the beautiful South Pacific islands, Kava is a famous beverage rooted in the local culture. It…
Jack in the box fast food
Jack In the Box : The perils of surging fast food culture in the USA Jack in the Box - How a culture of fast-food can clog your arteries, weaken your heart, fatten…
beta hcg test
Beta hCG Test A Beta hCG test measures the level of human gonadotropin hormones present in the blood that is primarliy…
GM Diet: The fastest way to lose weight or yet another hoax diet? General Motors started this trend of extreme dieting for 7 straight days to ensure its employees were able…
vital organ diseases
Common diseases that could cripple your vital organs Brain, heart, kidney, lungs, and liver - these vital organs are indeed vital for your survival. However, these…
antiHEV IgM test
Anti hepatitis E virus (Anti HEV) IgM Test Anti HEV IgM test determines the level of the IgM antibodies in the blood, The disease is often…
General adaptation syndrome: Understanding stress, one step at a time The struggle of the body to produce hormones during a stressful situation is the main theme of general…
Dragon Fruit – Blessing from Nature’s Basket Dragon fruit is packed with nutrients but low on calories. It is the dream food that can help…
blood ketone test
Blood Ketone (D3HB) Test The Blood Ketone Test measures and monitors the levels of ketone in the blood which is usually performed…
Astaxanthin: Why experts believe it could be 550x more potent than vitamin E! What is astaxanthin and why is this new supplement on the block touted as the most powerful antioxidant…
hidden causes obesity
8 hidden causes of obesity you probably didn’t know! Did you know that around 2 billion people worldwide are either overweight or obese? Are you too a…
C-Reactive Protein Test A CRP or c-reactive protein blood test is an important diagnostic tool used to determine the risk of…
understanding addiction
Addiction explained: An obsession that could cost you your life Is addiction a behavioral disorder? Or is it a chronic disease? How does addiction cause chemical and structural…
chloride test
Chloride Test A chloride test of the blood checks the level of chloride in body, an important factor governing the…
kidney stones
Kidney stones Kidney stones are solid substances made up of crystals. They can be of various sizes. Treatment depend on…
cytomegalovirus igm test
Cytomegalo Virus (CMV) – IgM Test The CMV antibodies include both IgM and IgG antibodies which are the immune system's response to a CMV…
tonometry
Tonometry Tonometry uses a device called tonometer to measure the pressure inside the eye. This pressure is depends upon…
Okra: How can this nutrient-dense vegetable help you fight diabetes? Okra is a food which is rich in nutrients and minerals which are extremely essential for a healthy…
Juice Plus: Can you really replace actual fruits with pills?  Juice Plus supplements intend to fill nutritional gaps present in our daily diet. But how successful have they…
stress depressed anxiety
Are you depressed or just stressed? Know when to see a doctor Why are some people more anxious than others? Is being depressed the same as feeling sad? Have you…
Tamarind: The top health benefits of this staple Asian ingredient Did you know this sweet and sour pulpy fruit does more than just add a tangy flavor to…
valproic acid test
Valproic Acid Test Valproic acid test is performed to generally check for psychiatric and even neurological conditions such as bipolar disease…
Anti-Inflammatory foods: 18 foods to a disease-free you Anti-inflammatory foods are the foods which are known to reduce the inflammation as well as the pain from…
The Shepherd's diet
Facts about the Shepherd’s diet Kristina Wilds promoted Shepherd's diet, a Christian-based diet that highlights Jesus Christ's diet as mentioned in the Bible.
vdrl test syphilis
VDRL Test The VDRL test is a blood test that is used to diagnose sexually transmitted or venereal diseases, primarily…

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