Awareness and Cure of Thalassemia
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TOPIC: General studies 2
World Thalassemia Day 2019: 8th May
Thalassemia (or Mediterranean Anaemia) is the most common monogenesis disease affecting people across the world. This debilitating disorder, characterised by abnormal production of haemoglobin in the body, is a silent killer.
India is the thalassaemia capital of the world with 40 million carriers and over 1,50,000 thalassaemia majors under blood transfusion every month.
- There are almost 42 million carriers of beta-thalassemia trait.
- While an average prevalence rate of 3-4% has been established across the country, a higher frequency has been observed in certain communities, such as Sindhis, Punjabis, Gujaratis, Bengalis, Mahars, Kolis, Saraswats, Lohanas and Gaurs.
- An estimated 10,000 -15,000 babies with Thalassemia Major are born every year.
The tragedy is that most of these children succumb to cardiac complications at an early age. The heartbreak suffered by their families is another tale of anguish. Added to this, is the significant economic burden on the families as conventional treatment such as life-long blood cell transfusion, iron chelation therapy or splenectomy (surgical operation to remove the spleen) are hugely expensive.
What is Thalassemia?
Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called haemoglobin, an important part of red blood cells.
- When there isn’t enough hemoglobin, the body’s red blood cells don’t function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling in the bloodstream.
- Red blood cells carry oxygen to all the cells of the body. Oxygen is a sort of food that cells use to function.
- When there are not enough healthy red blood cells, there is also not enough oxygen delivered to all the other cells of the body, which may cause a person to feel tired, weak or short of breath. This is a condition called anaemia. People with thalassemia may have mild or severe anaemia. Severe anaemia can damage organs and lead to death.
- Thalassemias are inherited conditions — they’re carried in the genes and passed on from parents to children. People who are carriers of a thalassemia gene show no thalassemia symptoms and might not know they’re carriers. If both parents are carriers, they can pass the disease to their kids. Thalassemia’s are not contagious.
Types of Thalassemia
Thalassemia minor: In Thalassemia minor, the hemoglobin genes are inherited during conception, one from the mother and one from the father. People with a Thalassemia trait in one gene are known as carriers or are said to have thalassemia minor. Thalassemia minor is not a disease and they have only mild anemia.
Thalassemia Intermedia: These are patients who have mild to severe symptoms.
Thalassemia Major: This is the most severe form of Thalassemia. This occurs when a child inherits two mutated genes, one from each parent. Patients Children with thalassemia major develop the symptoms of severe anemia within the first year of life. They require regular transfusions in order to survive or a bone marrow transplant and are at a grave risk of iron overload and other complications.
The signs and symptoms of beta thalassemia vary depending on the type that a child has. Most children with beta thalassemia trait have no symptoms. Those with beta thalassemia major and intermedia may not show any symptoms at birth, but usually develop them in the first 2 years of life.
Some of the more common symptoms of beta thalassemia include:
- Fatigue, weakness, or shortness of breath
- A pale appearance or a yellow color to the skin (jaundice)
- Deformities of the facial bones
- Slow growth
- A swollen abdomen
- Dark urine
BMT is the only treatment that offers a potential cure for thalassemia at this time.
- In BMT, high-dose chemotherapy eliminates thalassemia-producing cells in the marrow and replaces them with healthy donor cells from bone marrow or umbilical cord blood.
- BMT has a better outcome in younger patients with thalassemia.
- Other factors affecting the success include adequacy of chelation, the presence or absence of liver fibrosis and the presence or absence of liver enlargement.
Advances in infrastructure and techniques for BMT have made the procedure safer and more effective. Problems of rejection are improving with the use of intensive immunosuppressive therapy. After a successful bone marrow transplant, a patient with thalassemia will not require further blood transfusions. But he may require treatment for the pre-existing iron overload from his previous transfusions.
Challenges & Concerns
Lack of safe blood transfusion facilities: The biggest challenge that thalassemia patients face today is the lack of safe blood transfusion facilities. They run the risk of life threatening viral infections. We must make it mandatory to test for haemoglobin HPLC in the population to identify persons at risk of transmitting the abnormal gene.
Urgent need for genetic screening: The available treatments for Thalassemia Major place a huge economic burden on patients. The cost of supportive care and management of a child with thalassemia major is estimated at Rs 1,00,000- 2,50,000 per year depending on the age and presence of complications. Cost of a bone marrow transplant (BMT) is estimated to be Rs 14-Rs 15 lakh, according to the union ministry statistics. Also, getting a match for BMT is very difficult. Therefore, the best cure for thalassemia is prevention through genetic screening.
Absence of General Population Screening: What we generally do in India is secondary prevention where the parents go for carrier screening only after one child is born with Thalassemia. But, ideally, there should be general population screening so that such births can be prevented. The carrier screening test is a simple and inexpensive test called the Haemoglobin Electrophoresis which can be done at most biochemistry labs. The awareness about this disorder is high in cities, but low in rural areas.
Lack of Awareness around Pre-marital genetic screening: There are three stages at which a couple can undergo screening – pre-marriage, post-marriage but pre-conception, and first trimester of pregnancy. Unfortunately, in India, there is a lot of stigma attached to pre-marital genetic screening. It has been made mandatory in many Mediterranean countries. The availability and safety of blood are important for thalassemia major patients. Gynaecologists should make couples undergo the test for Thalassemia when they prescribe other tests, so that no one is born with Thalassemia Major. The more aware the public is about thalassemia, the more likely they are to take this test.
The Way Ahead:
Thalassemia free India is a very real possibility. To achieve it, focused, backward planning and awareness generation is the need of the hour.
Patients from impoverished families do not have sufficient information regarding free treatment centres. They do not even know where to go to collect free medicines. The government should take up thalassaemia as a serious public health concern and arrange patient education programs. We need quality drugs to be made available freely by the government at least to poor patients.
The time is ripe for medical researchers, doctors, research institutes and early-stage clinical companies to enter the arena and work on a feasible gene therapy solution for thalassaemia. If successful, it can pave the way for therapeutics for other rare, genetic disorders in India.
The model of Pre-marital genetic screening must be replicated and there is a need to increase the number of centers in India which are able to perform premarital diagnosis, and provide this facility at a subsidised cost or free for the poor, and introduce quality control programs. An important challenge is to develop pre-implantation genetic diagnosis as many couples are distressed by having affected children in consecutive pregnancies. Investment in grass root level techniques for premarital screening would be worthwhile, as this would help to provide diagnosis in peripheral areas also. The need of the hour is to introduce control programs in the high risk States.