Know Thalassemia

What is thalassemia

Thalassemia is the name given to a group of severe blood disorders.  Other names are Cooley’s Anemia (named after the doctor who first did systematical research on it) or Mediterranean Anemia.

They are one of the biggest threats to children’s lives all over the world. When Thalassemia stays untreated someone affected with it is unlikely to life until adulthood.

People with Thalassemia major are unable to make the chemical needed for producing proper mature haemoglobin. Haemoglobin is  part of the red blood cells which can’t fulfill the purpose or carrying oxygen and wastes through the body when affected with Thalassemia . After a short time the cells collapse because of their unstable structure. Therefore the number of red blood cells in the body is too low – that is called anemia. Without sufficient haemoglobin the body cannot carry oxygen properly and after a while the body will not survive.
Thalassemics require blood transfusion regularly (approximately every 3 weeks) to balance this lack.

The inability to form well working red blood cells lies in the genes, the DNA. Someone suffering from thalassemia has different genetic information about the red blood cells than a healthy person, a mutation occurred. That’s why thalassemia is called a genetic disease, it is passed on from parents to their children.

Different types of thalassemia exist, varying in severity, appearance and cause. α- (alpha) and β- thalassemia (beta) major and minor are the most prevalent ones.

No official survey or study captures the exact number of children affected  with severe anemia in the whole world but in India alone more than 10,000 new children with the disease are born every year!

Occurrence of Thalassemia

Symptoms and causes

When a child has severe thalassemia this occurs in the first years of life. Behavior is often listless, apathetic, weak. This is caused by the lack of oxygen. The symptoms include

  • shortness of breath
  • fatigue (tired, lethargic)
  • a poor appetite
  • jaundice (skin and sometimes the white of the eyes become yellowish)
  • dark urine
  • a swollen abdomen
  • irritability
  • the child is likely to have infections
  • slow growth

When the thalassemia proceeds or even remains untreated it leads to

  • Severe anemia (low number of red blood cells)
  • dizziness and headache come along with it
  • liver, spleen and heart enlargement
  • delayed  puberty
  • bone fragility
  • deformities of the facial bones
  • heart failure
  • premature death
  • infertility

The signs and symptoms you experience depend on your type and severity of Thalassemia. Some babies show signs and symptoms of Thalassemia at birth, while others may develop signs or symptoms later.


Genetic inheritance

  • Thalassemia is a blood disorder which makes the body produce defective red blood cells.
  • An important purpose of these cells is to carry oxygen from the lungs to any other part of the body where it is needed.
  • What they look like, their structure, what they are made of – all this is ‘written’ in the genetic code. Every cell in your body has DNA in it, encoding the information about its outer appearance. That information is available in two editions – one inherited from your father, one from your mother. Most of the time DNA exists in ‘packages’ called chromosomes, 46 alltogether (23 maternal, 23 paternal).
  • The protein hemoglobin is responsible for binding (‘fixing’) oxygen to the red blood cells.
  • Someone suffering from thalassemia received a so called mutation, his or her genes are different from a healthy person’s ones. The part about hemoglobin is modified in a way that restricts the carriage of oxygen.
  • When a child received only one mutated chromosom from a parent he or she has thalassemia minor. Still having one faultless gene his red blood cells work rather sufficiently, most of the times the mutation is not observed. That child is a carrier, the disease is in his genes but doesn’t emerge.
  • In the serious case – both parents are carriers and it happens that the child inherits two defective chromosomes- the child develops thalassemia major with all symptoms and dysfunctions.

That means:

  • All parents with a thalassemic child are carriers, they have Thalassemia trait/minor
  • The chance that their next child has thalassemia major is 25%

What is Beta Thalassemia trait (minor)?
Some people inherit one haemoglobin gene and one beta Thalassemia gene and have beta Thalassemia trait, also called beta Thalassemia minor. The red blood cells of these individuals are a bit paler and smaller than normal red blood cells. They are also a little anaemic, but this anaemia does not usually need treatment. However, they can pass on the beta Thalassemia gene to their children.

Learn more about what it means to have an thalassemic child from the Thalassemia International Federation and about the gentics of the disease.

Treatment and cure

Why blood transfusion for Thalassemics?
Due to their inability to produce normal and enough hemoglobin and red blood cells Thalassemics need foreign erythrocytes to transport oxygen. A unit of somebody else’s blood provides those, but only for a limited time. Ca. every 120 days all red cells in our blood are destroyed and renewed, exchanged. That is a natural process in every body, but creates the need of regular transfusion for Thalassemia patients as their own new cells are faulty again.

What happens during transfusion?

During transfusion, which can take 1-4 hours, a specific volume of blood is given to the patient through a needle in his arm and hand vessels. How much depends on age, height, weight and many more characteristics of the patient.


What effect has the transfusion?

It allows thalassemics to live until adulthood, their 40s and 50s.

If someone suffering from thalassemia receives blood transfusion regularly with all connected treatments that person has a chance to experience normal growth and mild physical activity.

Are there complications?

Yes. Regular blood transfusion increases the iron level in the recipients body as the transfused blood contains more iron than what he or she would take through nutrition etc. This can be very harmful to the body so the excess iron must be removed with so called chelation drugs.

What can you do to prevent Thalassemia major?

Family Planning:
– Special blood screening test or premarital test is available to find out whether you and your partner are Thalassemia carriers
– Consult your doctor for more information about Thalassemia

Prenatal Check up:
– If you and your partner are Thalassemia carriers, consult your obstetrician regarding prenatal diagnosis.

Prenatal tests available are:
– Chronic Villus Sampling: This test is performed from 10th to 12th week of pregnancy. It looks at cells taken from the placenta.
– Amniocentesis: This is usually done between 16 th to 18 th week of pregnancy. Under ultrasound guidance, the doctor removes a small amount of the amniotic fluid for DNA testing.
– Foetal Blood Sampling: This can be carried out at 18 th to 20 th week of pregnancy. A sample of the baby’s blood is obtained and tested to determine whether or not the baby has Thalassemia Major.

Chorionic Villius Sampling







Is there a cure for Thalassemia?
Bone marrow transplant provides new, healthy stem cells for the patient suffering from Thalassemia so he or she can produce own functional RBCs afterwards.

Unfortunately not everyone is medically eligible to undergo BMT as the procedure itself is dangerous. So to keep the risks low only children under 8 or 10 without enlarged spleen and transfusion related diseases (like HIV or Hepatitis) who have a sibling to donate the bone marrow are considered.In these cases BMT provides a 80-90% cure probability, with 5% mortality rate and a 10% chance of rejection (thus leaving the child thalassemic). The cost of transplant varies and may range from 8 lakhs – 15 lakhs.

You can find FAQs and many more facts about Thalassemia and BMT on the website of Cure2Children Foundation from Italy,

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