Thalassemia is a type of inherited blood disorder. It is passed from parents to children through genes. This disorder involves lack of oxygen-carrying protein called hemoglobin (an important part of red blood cells). When there is insufficiency of hemoglobin in the body, the red blood cells dont function properly. It also reduces the life of RBC, which means fewer healthy RBC travel in the blood.

RBC carries oxygen to all the cells of the body. Oxygen acts as food, which is used by cells to function. Shortage of healthy RBC means shortage in supply of oxygen to all other cells of the body. This may lead to lethargy in a person. The person may feel tired, weak or short of breath. This condition is termed as Anaemia.

People with thalassemia may suffer from mild or acute Anaemia. Acute Anaemia can be very severe and can lead to damage of major organs. It can even cause death.

Thalassemia major babies are born to parents who are carriers of thalassemia gene. According to rough estimates, each year some 10000 babies are born in India with thalassemia. Best way to prevent or eliminate thalassemia is screening of all pregnant women between 9 to 12 weeks.

Thalassemia is diagnosed through blood tests which include doing a complete blood count (CBC) and special hemoglobin tests. Through a sample of blood, CBC measures the amount of hemoglobin and the different kind of blood cells, such as red blood cells. Hemoglobin tests measure the types of hemoglobin in blood.

Moderate and acute thalassemia is usually diagnosed in childhood. This is because signs and symptoms, such as acute Anemia usually occur at an early age of 2 years. People who have mild form of thalassemia may get diagnosed after a routine blood test, as it will detect if they have anemia.

Here's Dr. Rahul Bhargava, Director and Head, Hematology, Haemato- Oncology and Bone Marrow Transplant, Fortis Memorial Research Institute, Gurugram has to say about the treatments:

Blood Transfusion

Treatment of thalassemia major relies on regular blood transfusion at regular intervals, to keep Hb above 9 gm. percent. It will help prevent form short stature and other skeletal and facial deformities. Recurrent lifelong blood transfusion since 6 months of birth is necessary.

Iron Chelation Therapy

With transfusion comes the problem of iron deposition, as each blood transfusion lead to incremental iron deposition in various tissues like pituitary gland liver and heart leading to early death. So along with transfusion patient also needs iron chelation therapy. It can be either oral (defriprone and defreseirox) or IV desferoxmine. Serum ferritin is one of the surrogate markers of iron overload in thalassemia patients. It needs to be done every 3 months. Gov.s efforts of providing free blood products and iron chelators is bearing fruits as life expectancy has shown an upward trend.

Bone Marrow or Stem Cell Transplant

As it is commonly known, bone marrow or stem cell transplant is the only curative modality for thalassemia. If done at an early age, 80 percent patients can be cured. Source of stem cell could be either brother or sister whose HLA is a complete match. Otherwise fully matched HLA donor can be tried in various international registries. This process is called as match unrelated donor transplant.

Gene Therapy

Gene therapy is gaining lot of traction in field of hemoglobinopathies. It has shown remarkable result with minimum toxicities and sustained haemoglobin production in various trials. There has been no major risk of cancer or other late effects.

We have come a long way and probably this decade will bring the much awaited cheers to thalassaemics. Till then in India, prevention is the only strategy to reduce the burden on already stretched health care system.

Better rate of blood transfusion

Regular Blood screening has significantly impacted reduction of infections due to blood transfusion

Significant improvement in treatment

Bone Marrow Transplant and Stem cell transplantation has led to patients having a good quality of life

Read more| 10 things to keep in mind while travelling with Asthma

Read more:
World Thalassemia Day: All you need to know from the expert - India Today