General Info

It is an inherited genetic disease of hemoglobin in Red Blood Cell (RBC) in the blood; it means it passes on from parents to children through defective genes. Children are born with it. It is not something you get the disease by coming into contact with another person.

α-globin genes, it has genetic information for production the alpha protein of hemoglobin and the β-globin gene, it has genetic information for the production of beta (β) protein of the hemoglobin.

There are two types of thalassemia based on which gene is defective. They are α-thalassemia if the α-globin gene is defective, and β-thalassemia if β-globin gene is defective.

• Alpha thalassemia
  There are four Alpha genes. Therefore four types of alpha thalassemia depend on number of defective genes transferred to the child by the parents.
  • • Silent carrier

  Child who receive only one abnormal gene (-α/αα)

  • • Alpha thalassemia trait

  Transfer of 2 abnormal genes called as alpha thalassemia minor or alpha thalassemia trait.

  • • Hemoglobin H disease

  Passage of three abnormal genes (-α/–) called as HbH disease, or alpha thalassemia intermedia.

  • • α-thalassemia Hydrops Foetalis (Hb Bart’s Hydrops Foetalis)

  They are also called as Hydrops Foetalis, alpha thalassemia major, or hemoglobin Bart’s. They receive four abnormal genes.

• β-Thalassemia There are two beta globin genes and therefore two types of Beta thalassemia depends on number of defective genes transferred to the child by the parents.
  • • β-thalassemia minor (trait)

  If one abnormal gene is transferred.

  • • β-thalassemia major

  if two genes are transferred.

No, treatment depends on the severity of the disease.

Generally thalassemia appears in three categories of severity;

• Thalassemia for which regular blood transfusion and Iron removing medicine are required: They are Beta thalassemia major, Beta thalassemia intermedia (in some cases), Alpha thalassemia major, Hemoglobin H disease – Constant Spring (in some cases), E beta thalassemia (in some cases)
• Thalassemia for which no treatment is generally needed: They are thalassemia minor/ thalassemia trait.
• A group of patients in whom some of them may need blood transfusions and Iron removing medicine (chelating medicine) while others with the same diagnosis may not require blood transfusions and Iron removing medicine (chelating medicine). This is especially true with beta thalassemia intermedia, Hemoglobin H – Constant Spring or E beta thalassemia.

All children with thalassemia are born with it. You cannot catch Thalassemia from others like an infection. It is passed on from parents. When one of the parents carry an abnormal Beta globin gene and pass it to their children, they become a Beta thalassemia minor, which is a milder form of Beta thalassemia. When both parents carry an abnormal Beta globin gene and they pass it to their children, children become Beta thalassemia major, which is a severe form of thalassemia. In short, If both parents are beta thalassemia carriers, there is then a 25% chance at each pregnancy that the child will have Beta thalassemia major.

All children with thalassemia are born with it. A child cannot get THALASSAEMIA from others like infection. It is passed on from parents. There are four alpha globin gene. A child get alpha thalassemia,  when Parents pass defective alpha globin gene to their children through birth. By understanding what alpha globin gene mutation the parents have, the chance of a child born with different alpha thalassemia can be predicted.

Yes, by testing blood immediately after birth, both beta thalassemia major and minor can be detected This facilities are available in many countries.

Usually beta thalassemia diagnostic test at birth is done by Hb electrophoresis. It is difficult to diagnose alpha thalassemia by Hb electrophoresis. Usually alpha thalassemia is confirmed by a gene study, which can be done in suspected cases.

If your child has thalassemia minor, he/she may have pallor, the blood tests may show low hemoglobin level, low value of MCV (Mean Corpuscular Volume) and MCH (Mean Corpuscular Hemoglobin). However this kind of picture can also be seen in children with iron deficiency anemia. In suspected case, Beta thalassemia minor can be confirmed by Hb electrophoresis and gene study. However, alpha thalassemia minor can only be confirmed by gene analysis.

Patients with thalassemia major may develop the following symptoms and signs during the first year of life. They include:

• Pallor or jaundice
• Fatigue
• Shortness of breath
• Poor growth
• Bone changes

Following blood investigations will help to confirm the diagnosis of thalassemia major (Severe form of thalassemia)

• Complete Blood Count (CBC),
• Hemoglobin electrophoresis
• Genetic analysis
• Blood testing of Parents and siblings

The main role of Red Blood Cells (RBC) is to carry oxygen from the lungs to other parts of the body, with the help of hemoglobin. In a severe form of thalassemia, the globin part of hemoglobin in the Red blood Cell is defective; therefore they are unable to make effective red blood cells, so patients cannot transport enough oxygen through their blood. As a consequence, children with severe form of thalassemia develop fatigue, growth failure, and a severe life-threatening anemia, and leads to heart failure. They die in the first decade of life if they are not given normal blood from blood donors.

The bone marrow transplantation is the potential cure for thalassemia major. However, it is very difficult to find the suitable bone marrow donor. Moreover, the procedure for bone marrow transplantation is very challenging and expensive. At present the most commonly available treatment consists of regular blood transfusions in hospital every 4-6 weeks and daily iron removing treatment (Iron chelating medicine). The treatment is lifelong. The most important predictor for survival is the strict adherence to regular monitoring and treatment.

Thalassemia major can affect growth and development of the child. Therefore regular monitoring of weight and height, are important. As a consequence of regular blood transfusion, blood iron level can be increased at a toxic level in your child. Therefore, blood iron level should be monitored regularly to decide whether to give iron-removing medicine. Excess blood iron can also deposit in the heart and liver and cause significant damage to the liver, heart, Therefore regular checking of iron level in liver and heart should be done by a special MRI scan. Excess iron in the blood can also deposit in pancreas, thyroid gland, and bone. Because of these, they can develop diabetes, thyroid problems, and bone problems. Therefore, regular checking and blood testing should be done. Some of the children with thalassemia also use iron-removing medicine (iron chelators) regularly. These medicines can affect blood count, , liver function kidney function, hearing, and vision. Therefore, blood tests for assessment of blood count, liver function, kidney function and tests for hearin , vision, should be done regularly.

In addition to iron removing medicines, children with severe form of thalassemia should be supplemented with vitamin D, calcium, to prevent development of bone problems.

Folate supplementation is recommended for non-transfusion dependent thalassemia patients.