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Thal-uh-SEE-me-uh, or thalassaemia, is a blood condition. It is hereditary, meaning that genes pass it on from parents to offspring. Genes contain information that might influence a person's appearance and potential for certain diseases, among other things.
The body has less haemoglobin than normal when a person has thalassaemia. Red blood cells contain haemoglobin, which enables the cells to transport oxygen. Anaemia can result from a lack of red blood cells or haemoglobin. You may have fatigue and weakness as a result.
There is no special therapy required if you have thalassaemia trait, a mild form of thalassaemia. However, you may require frequent blood transfusions if you have more severe kinds. These therapies involve getting blood from a donor. Changes in lifestyle are also crucial. For example, frequent exercise and a nutritious diet can help you deal with fatigue.
What Is Thalassemia?
A blood condition called thalassaemia affects how your body produces red blood cells. You inherit one or more defective genes from your biological parent or parents if you have this illness. Your body is unable to produce normal haemoglobin due to the genes. The protein that transports oxygen within red blood cells is called haemoglobin.
Your body makes less healthy haemoglobin proteins when you have thalassaemia. Your red blood cells have a shorter lifespan without the proteins. You have too few healthy ones as a result (anaemia). The symptoms of anaemia might be moderate or severe. Depending on the kind of thalassaemia you have, the symptoms vary.
Alpha and beta thalassaemia are the two forms of thalassaemia. The protein chains that comprise haemoglobin, alpha and beta, are the names given to them.
Alpha thalassemia
Four genes make up an alpha chain. Alpha thalassaemia is caused by a defect in one or more genes. The number of faulty genes you inherit determines your symptoms.
If one alpha gene is defective or absent, you won't experience any symptoms. Alpha thalassaemia minima is another name for this.
If you have two defective or absent alpha genes, your symptoms will probably be modest. Alpha thalassaemia minor is the name for this kind.
If you have three defective or absent alpha genes, your symptoms will be mild to severe. Haemoglobin H disease is another term for this kind.
Four defective or absent alpha genes: This kind is frequently lethal at delivery. You will probably require blood transfusions for the rest of your life if you survive this illness. Another name for it is hydrops fetalis with haemoglobin Barts.
Beta thalassemia
Two genes make up beta thalassaemia chains. The number of faulty genes determines the severity and symptoms of anaemia. It also affects where the flaw is on the beta chain.
If you have one defective or absent beta gene, your symptoms will be minimal or nonexistent. This type is also known as beta thalassaemia trait and beta thalassaemia minor.
You will experience moderate to severe symptoms if you have two defective or absent beta genes. These thalassaemias are categorised by experts according to whether they require frequent blood transfusions.
Blood Transfusions
People suffering from moderate to severe thalassemia need blood transfusions from time to time to maintain a normal level of hemoglobin and blood cells. However, the body may suffer from excess iron after having numerous transfusions.
Iron Chelation Therapy
To avoid iron overload from frequent transfusions, patients frequently need iron chelation therapy. Medications that eliminate excess iron from the body are used in this treatment, and they can be injected or taken orally.
Folic Acid Supplements
Folic acid supplements can aid in the synthesis of red blood cells and are frequently advised for patients, even though they do not directly treat thalassaemia.
Bone Marrow or Stem Cell Transplant
The only treatment for thalassaemia is bone marrow or stem cell transplantation from a compatible donor; this is usually more successful in younger patients but carries complications such as graft-versus-host disease.
Gene Therapy
The goal of thalassaemia therapy, an emerging medicine, is to infect the patient's bone marrow cells with genes capable of producing normal haemoglobin. Although this strategy is still mostly experimental, clinical trials have shown promise.
Surgery
Splenectomy, or the surgical removal of the spleen, may be required in some situations if the spleen enlarges abnormally and begins to damage red blood cells.
Management of Complications
Patients must be regularly monitored for consequences such as infections, bone abnormalities, and cardiac issues brought on by iron overload.
Depending on the institution and treatment plan, the cost of thalassaemia therapy in India is reasonable for foreign patients seeking cost-effective treatment choices. The whole cost of the treatment, the diagnostic, any required rehabilitation, and other elements are all included.
|
Cost Component |
Cost in USD |
|
Diagnosis |
1000 USD |
|
Treatment Costs |
24,000-30,000 USD |
|
Rehabilitation and Follow-up |
Variable by Procedure |
Thalassaemia symptoms can differ from person to person. They may not have any symptoms at all, or they might have a few minor ones. It manifests itself in the most severe form in certain people. It is because of the kind of thalassaemia they have.
Fatigue (due to low oxygen level in blood).
Paleness
Bone deformities
Osteopenia/ osteoporosis
Flat nose
Enlarged forehead
Excess growth of upper jaw
Spleen deformity
Liver enlargement
Jaundice (increased bilirubin)
Growth defects
Development delay
Breathlessness
Irritation
Nail deformities
Low immunity
Dark urine
Weakness
Loss of appetite
Heart problems
Diagnosis Of Thalassemia
Complete blood count (CBC):
A blood test called a complete blood count (CBC) yields data about blood cells. Thalassaemia may be the cause of low red blood cell and haemoglobin levels on the complete blood count (CBC).
Hemoglobin electrophoresis:
This test aids in identifying and differentiating the particular form of thalassaemia that is present in the illness. Additionally, it can identify the aberrant synthesis of haemoglobin that causes thalassaemia.
Iron level in blood:
The distinction between anaemia and thalassaemia must be made. Iron deficiency anaemia consistently exhibits low blood iron levels, whereas thalassaemia typically indicates normal or elevated iron levels.
Genetic testing:
The most reliable way to diagnose thalassaemia is through genetic testing. It also displays the particular gene defect in question. The blood sample is typically examined in labs to determine the kind and severity of thalassaemia it may cause.
Physical examination:
The signs and symptoms of thalassaemia, such as pale skin, an enlarged spleen, and irregular bone structure, are typically seen during a physical examination. A thalassaemia diagnosis can also be made by correlating it with the patient's prior medical history.
Prenatal Testing:
Chorionic Villus Sampling (CVS) and Amniocentesis are the two methods of performing prenatal diagnosis. It is through this procedure, done during pregnancy, to check if the baby is suffering from thalassemia. In CVS, samples of the chorionic villus and in amniocentesis, the amniotic fluid, are taken and used for genetic testing purposes.
Complications of thalassemia in the absence of treatment include:
Iron Overload: Those suffering from thalassemia and who have blood transfusions risk accumulating too much iron in their body. This, in turn, damages the organs of the body and interferes with their normal functioning. Excess iron can cause damage to different systems, including the heart, liver, and endocrine system.
Risk of Infection: Individuals with thalassemia are at an increased risk of infection, especially if they have the spleen removed.
Complications of serious forms of thalassemia include:
Deformities of Bones: The condition can lead to an expansion of the bone marrow that makes the bones wider. The ailment can also lead to serious deformity of the bones that might affect the face and skull. Additionally, it might lead to brittle bones and frequent fractures.
Enlarged Spleen: The spleen is responsible for clearing infections from the body and filtering cells that are damaged or are not functioning properly. Thalassemia results in the destruction of healthy red blood cells and the enlargement of the spleen.
Effect on Growth Rate: Suffering from anaemia might slow down the normal growth in children.
Heart Issues: Congestive heart failure and irregular heartbeat can be related to severe thalassemia.
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