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Thalassemia is an inherited blood disorder, which means it passed from parents to children through genes.  The disease is characterized by fewer healthy red blood cells and less hemoglobin than is considered normal in a healthy person. 

In a normal person, red blood cells containing the hemoglobin carry inhaled oxygen throughout the body.  Hemoglobin is an iron-rich protein in the red blood cells. 

Thalassemia patients can have mild to severe anemia.

The decrease in red blood cells and the low hemoglobin levels affect the consistent supply of oxygen to the body.   As a result, the patient experience tiredness, fatigued, difficulty in breathing and reducing overall quality of life.

Normal hemoglobin has four protein chains, two alpha chains and two beta chains.

Alpha Thalassemia

Four genes (two from each parent) are required for a normal and functioning alpha protein chains.  Alpha thalassemia occurs when one or two genes are defective.  If more than two genes are defective, moderate to severe anemia develops.

Beta Thalassemia

Two genes (one from each parent) are required for a normal and functioning beta protein chains.  Beta thalassemia occurs when one or both genes are defective.

There are a several different types of thalassemia including:

  • Beta-thalassemia intermedia
  • Mediterranean anemia
  • Alpha thalassemia 2
  • Cooley's anemia 

The severity and type of thalassemia a person has ultimately determines the potential symptoms.  The possible symptoms of this condition may include:

  • Fatigue and weakness
  • Pale appearance
  • Facial bone deformities/ defect/ abnormality
  • Abdominal distension/ swelling
  • Jaundice (yellowing of eyes and skin)
  • Slow growth (babies and children)
  • Dark coloured urine

Defects in genes (changes in DNA sequence or mutations) within cells cause this condition.  These DNA mutations disturb normal hemoglobin production, resulting in red blood cells being destroyed at a high rate and low levels of hemoglobin.  The amount of inherited defective genes/ mutations and the specific part of hemoglobin affected determine the type of thalassemia a person has.  The condition is also more severe with more defective (mutated) genes. 

The alpha hemoglobin chain in alpha-thalassemia is due to four genes.  This breaks down in the following way:

  • One gene mutation: No signs or symptoms
  • Two gene mutations: Mild signs and symptoms
  • Three gene mutations: Moderate to severe signs and symptoms
  • Four gene mutations: This is fatal causing a baby to die either during delivery or just after being born.  It is referred to as hydrops fetalis or alpha-thalassemia major.

The beta hemoglobin chain in beta-thalassemia involves two genes.  This breaks down in the following way:

  • One gene mutation: This is referred to as beta-thalassemia trait or beta-thalassemia minor. It causes mild signs and symptoms.
  • Two gene mutations: This is referred to as Cooley's anemia or beta-thalassemia major.  It causes symptoms that are moderate to severe.  Babies born with this condition are generally healthy right after they are born, but symptoms start within the first two years they are alive.  A more mild form can develop as the result of two mutated genes referred to as beta-thalassemia intermedia.

Risk factors for thalassemia may include:

  • This disease is more common in certain ancestry, including Middle Eastern, African, Greek, Italian and Asian.
  • A family history of this condition is a common risk factor and may be as a result of mutated hemoglobin genes being passed down from parents to their children.

If a person is born with this condition, the symptoms usually begin within the first two years.  The doctor will carry out the physical examination of the patient and ask for several blood tests to accurately diagnose the condition.  The different blood tests determine the size, shape and amount of red blood cells. Blood testing in these cases may show the following:

  • Small red blood cells
  • Red blood cells in different shapes and sizes
  • Uneven hemoglobin distribution in red blood cells
  • Low red blood cell levels

Blood testing may be done for the following reasons:

  • To evaluate the hemoglobin
  • To determine iron levels in the blood
  • To perform DNA analysis

If there is a high risk for thalassemia, testing of parents can be done to diagnose this condition in the fetus and to determine the severity.  Prenatal tests may include:

  • Amniocentesis
  • Chorionic villus sampling

Treatment is not always required for patients who have no symptoms or very mild symptoms.  Although, in mild cases, patients may need an occasional blood transfusion, particularly after events that result in blood loss, such as giving birth or having surgery.  If iron overload is a problem, such as with those with beta-thalassemia intermedia, the medication to remove excess iron from the body may be necessary.  In cases where thalassemia is moderate to severe, the following treatments may be considered:

  • Stem cell transplant: This may be necessary in very severe cases where no other treatments are working.  Prior to the transplant, patients may need to go through radiation or take specific drugs to destroy the affect bones marrow.  It is critical that all patients use a well-matched donor.
  • Frequent blood transfusions: Infusions may be necessary as often as every few weeks for severe forms of this disease.  This may lead to iron overload for some patients, requiring additional treatments to remove the excess iron.

There are several different complications that may occur a result of this condition.  General complications of thalassemia may include:

  • Infection: This condition increases the risk of infection
  • Iron overload: This condition can lead to elevated iron levels which can have a profound impact on the body such as liver, heart and endocrine system damage

When this condition is severe, it may lead to the following complications:

  • Enlarged spleen: The spleen is necessary to filter unwanted material in the body and fight infection. This condition can overwork the spleen, causing it to become enlarged.  This can cause transfused blood cells to not last long and it can worsen anemia.
  • Heart problems: When this condition is severe, it can cause issues like abnormal heart rhythms and congestive heart failure.
  • Bone deformities: This condition can cause bone marrow expansion which can cause widening of the bones.  The bones can also become brittle and thin, increase the risk of bone breaks.
  • Slowed growth rates: With this condition, puberty may be delayed and normal childhood growth can be slowed.

Thalassemia is a controllable condition in many cases.  Living a healthy lifestyle and abiding by all prescribed treatments can be greatly beneficial.   Other things patients should do include:

  • Avoid excess iron:   Do not take supplements and vitamins without doctor's permission
  • Avoid infections:   Practice proper hand-washing, maintain good hygiene and avoid those who are sick
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