What is Thalassemia?

Thalassemia is an inherited genetic blood disorder in which the body cannot maintain desired level of haemoglobin, the pigment in blood that renders it red. Haemoglobin is primarily responsible to transport oxygen throughout the body and lack of it can cause anaemia and related health issues (such as weakness, tissue damage, blood clots etc).

Thalassemia severity?

There are 2 levels of  Thalassemia: Minor (or carrier or trait) and Major.

Thalassemia Minor: In case of Thalassemia minor, body produces less healthy haemoglobin (either by quantity or by quality) but has no real issue with life style except during some critical surgery which may demand high haemoglobin level.  Thalassemia minors carry one defective (with Thalassemia trait) gene and a normal gene.

Thalassemia Major: Thalassemia major is a serious disorder in which the body cannot maintain the desired Haemoglobin level at all without external medical help. Thalassemia majors carry two defective (with Thalassemia trait) genes.

Cause of Thalassemia?
The key components of haemoglobin molecule are ‘alpha chains’ and ‘beta chains. In case of Thalassemia, the haemoglobin contains either faulty alpha chains or the beta chains. In other words, the body has abnormal/faulty haemoglobin. Thalassemia is also affected by many other individual factors. The type of Thalassemia or severity depends on the amount of abnormal haemoglobin and how badly it is affected in our body. Two individuals may have same type of Thalassemia with different severity of illness from the same condition.

Thalassemia is caused when one or two defective gene is carried forward to the next generation (baby). If the baby carries only one defective gene from either parent then the baby is a Thalassemia minor. If the baby carries two defective genes from both parents, then the baby is a Thalassemia major.

The below diagrams can help us to understand the possible combinations

Symbols used to represent parents and baby with Thalassemia trait:
Thalassemia trait symbol

Thalassemia trait with both minor mother and father 
25% (1 in 4) chances with no Thalassemia trait
50% (2 in 4) chances with Thalassemia minor trait
25% (1 in 4) chances with Thalassemia major trait

Thalassemia trait with both minor mother and father

Only father is a thalassemia minor
50% (2 in 4) chances with no Thalassemia trait
50% (2 in 4) chances with Thalassemia minor trait

Thalassemia trait with only minor father

Only mother is a thalassemia minor
50% (2 in 4) chances with no Thalassemia trait
50% (2 in 4) chances with Thalassemia minor trait

Thalassemia trait with only minor mother

As the Thalassemia is genetically mutated, it is important to know if you and/or your partner carry the Thalassemia trait especially before family planning.

Types of Thalassemia?

Depending on the type of defective gene (alpha chains or beta chains), the Thalassemia is categorised as alpha Thalassemia and beta Thalassemia. There are also some other types such as delta Thalassemia.

Is Thalassemia curable?

Though there are limited success stories, the treatment being available at very limited medical facilities, Thalassemia is curable by stem cell or bone marrow transplantation. In this process the patient’s bone marrow is replaced by healthy bone marrow, and only after a successful bone marrow transplantation, s/he can produce healthy Haemoglobin and can survive without any further blood transfusion.