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Thalassemia
Thalassemia is a genetic condition which leads to disorders of the red blood cells. The red blood cells contain an oxygen-carrying protein called haemoglobin which is malformed in the case of thalassemia, therefore the body has a low oxygen supply. This shortage of oxygen supply affects the organs and causes low energy levels. Thalassemia is an autosomal genetic disorder, implying that it is not sex-linked and can be inherited and passed on by both genders equally.
A person suffering from thalassemia tends to suffer from symptoms of Thalassemia such as:
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Low blood count
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Anemia
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Lethargy
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Loss of appetite
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Enlargement of liver and spleen
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Paleness
Haemoglobin is an iron-containing protein found in the blood, consisting of two parts Alpha and Beta Hemoglobin. These proteins together make the oxygen-carrying protein complex of the red blood cells. A malformation in either of the two would lead to Thalassemia. Thalassemia can be broadly categorized into two classes:
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Alpha
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Beta.
When a person has missing or malformed Alpha proteins in their Hemoglobin, they have Alpha Thalassemia. When a person has missing or Malformed Beta hemoglobin, they have Beta-Thalassemia.
In addition to the above two categories, Thalassemia may also be categorized as
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Major
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Minor
A person with the Thalassemia Minor gene is a carrier of the genetic mutation, such people may not show symptoms of Thalassemia throughout their life, but may pass on the gene to their progeny/offspring/child. A person with Thalassemia major carries the dominant gene for Thalassemia and suffers the symptoms of Thalassemia.
Thalassemia is one of the most common, rare diseases in the world affecting close to 5 people out of every 10,000 annually. The disease is commonly found in people of Mediterranean origin like Turkey and Greece, followed by high instances of occurrence in people of African and Asian origin. India is a country with some of the highest number of recorded cases of Thalassemia around the world. With 10-15 thousand babies born with Thalassemia major every year, and close to 42 million carries, India has some of the highest instances of the disease. The widespread occurrence of Thalassemia can be assessed by the fact that it is recognized as a disability under the Rights of people with disability act 0f 2016 in India.
Thalassemia major can shorten the life expectancy of a person to as short as 20-30 years of age. A child suffering from Thalassemia misses out on basic childhood activities owing to shortage of breath and overall lack of stamina. Their quality of life is hampered.
Conventionally, blood transfusion along with chelation is the most commonly deployed treatment and more recently, bone marrow transplantation has been the treatment of choice for these patients. Bone marrow transplants are usually more effective in the case of young patients and children. Both these treatments have their own impact on the patient health and can weigh down on the finances of the family involved.
Prevention is always better than cure and timely screening can help prevent Thalassemia. Simple blood tests (Hb level and HPLC) can easily diagnose the carrier status of thalassemia both in symptomatic and asymptomatic individuals. Community screening should be encouraged to diagnose thalassemia in minors and ultimately help the burden of the disease at the individual & family level and at the societal level.
Advancements in curative Thalassemia treatment have been made in recent years, which can ensure normal healthy life for people. At Manipal hospital, our expert Bone Marrow Transplant (BMT) department has experienced professionals equipped with high-end technological tools for customized, patient-centric care to ensure holistic care and healthy recovery.
Treatment of Thalassemia: Then and now.
Around 7% of the global population carries the Thalassemia gene. It is a rather common occurring, rare disease. Thalassemia is a congenital condition of the blood. It is an inherited genetic disorder which affects both genders equally. A patient suffering from Thalassemia tends to have a lower blood count, their red blood cells die faster in comparison to the red blood cells of a normal healthy human. Since red blood cells are dying faster, the body overcompensates for this loss with active production. Blood cells are formed in the bone marrow, the spongy dark coloured inner core of bones. Due to excessive blood cell formation, bones tend to broaden and become prone to breakage.
Other symptoms of Thalassemia include:
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Anaemia
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Shortness of breath
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Dizziness
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Paleness of skin
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Lethargy
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Fatigue without exertion
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Leg cramps
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Recurrent headaches
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Arrhythmia or tachycardia (Irregular heartbeat usually higher than normal)
Conventional therapy for Thalassemia involves regular blood transfusion from compatible donors to keep the patient's blood count in the normal healthy range. While this therapy has been used for a while now and helped prolong life in the case of Thalassemia patients, it may lead to alloimmunization in recipients of blood transfusion. Whenever a new material enters the body, especially the bloodstream, it is treated as a foreign antigen and the immune system is activated. In the case of regular blood transfusions, the patient's body may be exposed to plasma from different donors which might lead to alloimmunization and hyperactivity of the immune system. This can have detrimental health effects in the long run.
Another known side effect of blood transfusion is the deposition of iron in the recipient's body. In severe cases, these depositions can hamper the normal functioning of organs such as the heart, lungs or even the brain. Chelation therapy is used to treat this condition and prevent iron accumulation in the body.
The first known case of Thalassemia was recorded in 1925 in Detroit when a physician was examining Italian children showing abnormal organ enlargement and young deaths. Since then, medical sciences have grown leaps and bounds in the improvement of treatment procedures. Bone marrow transplant or Hematopoietic stem cell transplant is one curative treatment which has gained acceptance owing to its success, especially in young patients.
Bone marrow transplant is the treatment of choice for young individuals and the overall curative success is high, and patients are able to lead a healthy life. Unlike blood transfusion which needs to be performed regularly, this therapy does not require repeated treatment and proves to be cost-effective in the long run compared to blood transfusion.
In recent times, not only a fully matched (HLA) related donor transplant is an option but many alternative donor transplants like matched unrelated donors [MUD], cord blood and even haploidentical donor transplants are being done and proving successful for curative treatment.
Manipal Hospital is one of the best haematology hospitals in Delhi, where our experienced staff is equipped with state-of-the-art technological facilities to provide the best treatment for Thalassemia to our patients and help them make a fast and healthy recovery. Our teams of clinical haematology and bone marrow transplant are fully equipped to conduct all kinds of transplants with excellent results. Our haematologist in Delhi provides holistic care for a healthy recovery and helps patients regain full control of their life.
So if you are looking for thalassemia treatment in Delhi then book an appointment with us now!
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