Signs and Symptoms

Your doctor may suspect you or your child of having Fanconi anaemia (FA) if you show signs and symptoms of:

  • Anaemia
  • Birth defects
  • Bone marrow failure
  • Developmental or eating problems

FA is an inherited disorder – i.e.  it’s passed from parents to children through genes. If a child has FA, his or her brothers and sisters also should be tested for the disorder.

 

Anaemia

Anaemia is the decreasing number of red blood cells or less that required quantities of haemoglobin in the blood.  The most common symptom of all types of anaemia is fatigue (tiredness). Fatigue occurs because your body doesn’t have enough red blood cells to carry oxygen to the various parts of the body. If you have anaemia, you may not have the energy to do normal activities.

A low red blood cell count also can cause shortness of breath, dizziness, headaches, coldness in your hands and feet, pale skin, and chest pain.

Anaemia is the decreasing number of red blood cells or less that required quantities of haemoglobin in the blood

Birth Defects

Many birth defects can be signs of FA, these include:

  • People with FA may have a short stature, ±60% of FA patient are affected .
  • Approximately 20% of FA patient have skeletal defects, these range from hip abnormalities, scoliosis  an abnormal lateral curvature of the spine and spinal malformation.
  • Eyes are abnormally small and close-set. A visual defect known as Strabismus (a disorder of vision from normal orientation of one or both eyes so that both cannot be directed at the same point of focus). Epicanthic folds (a fold from the eyelids over the inner canthus of the eye)
  • Abnormal shaped ears, abnormal middle ear or deaf.
  • Neck abnormality known as Sprengel
  • Spine abnormality known as Spina Bafida (a birth defect that involves the incomplete development of the spinal cord or its coverings)
  • Structural heart defects called Cardiopulmonary.
  • About 25% of FA patients suffer from kidney problems, being either deformed, missing or not in correct orientation.
  • Radii may be absent or hypoplastic (a condition of arrested development in which an organ or part remains below the normal size) the latter however is only present with a missing, oddly shaped, or three or more thumbs.
  • Alnae may is dysplastic (abnormalgrowthordevelopmentofcells,tissue,bone,oranorgan.
  • Hands may be hypoplastic.
  • Gastrointestinal: Atresia (esophagus, duodenum, jejunum) imperforate anus, tracheoesophageal  fistula
  • Dislocation of hip (dislocation occurs when the ball–shaped head of the femur comes out of the cup–shaped acetabulum set in the pelvis)
  • Toe syndactyly (a hereditary disorder marked by the joining or webbing of two or more fingers or toes)

Many birth defects can be signs of FA

Bone Marrow Failure

Bone marrow is the flexible tissue found in the interior of bones. Bone marrow produces new blood cells in large bones of the human body. The hematopoietic compartment of bone marrow produces approximately 500 billion blood cells per day, which use the bone marrow vasculature as a conduit to the body’s systemic circulation.

Bone marrow smear of a patient with chronic myelogenous leukemia.

Now if you have FA, the above said does not happen in your body as FA leads to bone marrow failure.

When your bone marrow fails, it can’t make enough red blood cells, white blood cells and platelets. This can cause many problems that have various signs and symptoms.

With too little red blood cells, you can develop anaemia. Red blood cells are the oxygen carriers to your body, hence the shortness of breath, dizziness, headaches. In FA, the size of your red blood cells also can be much larger than for a healthy person. This makes it harder for the cells to work properly.

With a low white blood cell count, you’re at risk of infections. White blood cells are a part of the immune system and help our bodies fight infection.  Infections also may last longer and be more serious than normal for a FA patient.

Platelets help the blood to clot so when your platelet counts are low, you may bleed and bruise easily, suffer from internal bleeding, or have petechiae (pe-TEE-kee-ay). Petechiae are tiny red or purple spots on the skin. These spots are caused by bleeding in small vessels under the skin.

Bone marrow make lots of harmful, immature white blood cells called ”blasts” in FA patients. Blasts don’t work like normal blood cells. It prevents the bone marrow from making enough normal blood cells as their counts increase.

A large number of blasts in the bone marrow can lead to acute myeloid leukaemia (AML) a type of blood cancer.

 

Developmental Problems

Other signs and symptoms of FA are related to physical and mental development. These include:

  • Low birth weight
  • Poor appetite
  • Delayed growth
  • Below-average height
  • Small head size
  • Mental retardation or learning disabilities

 

Signs and Symptoms of Fanconi Anaemia in Adults

Some signs and symptoms of FA may develop as you or your child gets older. Women who have FA may have some or all of the following:

  • Sex organs that are less developed than normal
  • Delays in menstruatingnstrual periods that may be irregular, however menopause occur at an earlier than normal age.
  • Problems getting pregnant and carrying a pregnancy to full term.
  • Sex organs are less developed than normal in males and may be less fertile than men who don’t have the disease.