Blog Bone Marrow Transplant: The cure for Thalassemia.

Bone Marrow Transplant: The cure for Thalassemia.

What is thalassemia?

Thalassemia is a genetic blood disorder that generally prevails in the family history. People with Thalassemia disease are not able to make enough hemoglobin, which causes severe Anaemia. Hemoglobin is a proteins found in red blood cells and carries oxygen to all parts of the body. People who have thalassemia produce fewer healthy haemoglobin proteins, and their bone marrow produces fewer healthy red blood cells. When there is not enough hemoglobin in the red blood cells, oxygen cannot get to all parts of the body. Organs then become starved for oxygen and are unable to function properly.

Status of Thalassemia in India –

In India, every year 10,000 children are being born with thalassemia which approximately accounts for 10% of the total world incidence of thalassemia-affected children. 1 in 8 thalassemia carriers live in India. In India, there are nearly 42 million carriers of the β-thalassemia trait.
Categorisation of Thalassemia :
In thalassemia either the alpha chains or beta chains are reduced thus causing aforesaid types.
There are two primary types of Thalassemia disease:
• Alpha Thalassemia disease
• Beta Thalassemia disease.

Beta thalassemia is more common than alpha thalassemia. Around 3-4% children that is 10000 to 12,000 have traits of beta thalassemia since birth.When the words “trait,” “minor,” “intermedia,” or “major” are used, these words describe how severe thalassemia is. A person who has thalassemia trait may not have any symptoms at all or may have only mild anaemia, while a person with thalassemia major may have severe symptoms and may need regular blood transfusions to survive.

Diagnosis of Thalassemia
The diagnosis of Thalassemia can be confirmed with a blood test. The lab technician checks for the number of red blood cells and abnormalities in the size, shape, or color. Blood tests can also help in DNA analysis to look for mutated genes. Prenatal testing is another way to diagnose thalassemia and severity. Tests used to diagnose Thalassemia in fetuses include Chorionic Villus Sampling and Amniocentesis. Chorionic Villus Sampling is done usually in the 11th week of pregnancy. This test involves removing a tiny piece of the placenta for evaluation. And Amniocentesis is usually done in the 16th week of pregnancy. This includes examining a sample of the fluid that surrounds the fetus.

Those with thalassemia major usually show symptoms within the first two years of life. They become pale and listless and have poor appetites. They grow slowly and often develop jaundice. Without treatment, the spleen, liver, and heart soon become greatly enlarged. Bones become thin and brittle. Heart failure and infection are the leading causes of death among children with untreated thalassemia major.
The symptoms of thalassemia also vary depending on the type of thalassemia. These can include:
• Pale or yellow skin
• Slow growth in children
• Wide or brittle bones
• Cold hands and feet
• Shortness of breath
• Enlarged spleen
• Fatigue/Weakness
• Dark urine
• Chest pain
• Poor appetite
• Facial bone deformations
• Abdominal swelling
• Heart related problems also arise in future
CAUSES OF THALASSEMIA : The disease is an outcome of gene mutation. The more complexity of mutation higher is the chance of severe thalassemia. The disease is inherited if the disorder pertains to any of the parents. It cannot be affect us as flu or cold.


How to treat thalassemia patients
1. Regular blood transfusions with adequate iron chelation – Keep Hb>9.5gm/dl, Sr. ferritin<1000ug/l 2. Iron chelation- Necessary to remove excess iron from body with help of medications . 3. Hematopoetic stem cell transplant is the only cure as of date with Good results if done early with a match sibling donor. Half matched/haploidentical transplants also an emerging treatment option for those who want cure for thalassemia and do not have a matched sibling . 4. Genetic Counselling is a mainstay to prevent thalassemia 5. Gene therapy is the future but at present it is in clinical trials phase. Firstly, a healthy diet and exercise are important. Secondly, patients should check with their doctors about how much iron-rich food, such as spinach, to consume. Finally if you have thalassemia, follow these habits to stay well: 1. Eat a healthy diet to keep your bones strong and give you energy. 2. If you get a fever or feel ill, see your doctor 3. Distance yourself from sick people and wash your hands often as they have high infection risk. 4. Ask your doctor about intake of supplements like calcium and vitamin D. 5. Strict no to iron pills. 6. Taking ample amount of rest and less stress can be life-altering. Myths and Facts Myth: Thalassemia carrier couples will always have Thalassemia Major children. Fact: That is not true. When both the partners are Thalassemia carriers there is 25 percent chance of having a Thalassemia Major child, 50 percent Thalassemia Minor and 25 percent normal i.e. not even a carrier. And if only one or none of the couple is a carrier, none of the child will be a Thalassemia Major. Myth: Thalassemia is not preventable. Fact: Thalassemia is 100 percent preventable. Thalassemia can be easily prevented by pre-marital screening or early pregnancy screening followed by marriage counseling and antenatal diagnosis if required. Myth: There is no treatment for Thalassemia Major. Fact: Thalassemia Majors can live normal life if they are given adequate blood transfusion and iron chelation therapy. Myth: Thalassemia cannot be cured. Fact: Thalassemia can be cured by bone marrow transplantation but it requires HLA matched siblings. However, HLA matched donor is not always available.

– Dr. Arun Danewa
Consultant – Pediatric Hemato Oncology And Pediatric BMT