What is Thalassaemia?
Thalassaemia is an inherited blood disorder that people are born with. It affects the body’s ability to produce haemoglobin, a protein in red blood cells that helps transport oxygen throughout the body. When the body does not make healthy haemoglobin, it can cause anaemia. The severity of thalassaemia majorly depends on what type of thalassaemia a person has. In many cases, people with thalassaemia may need to get blood transfusions continuously for the rest of their lives.
What are the Types of Thalassaemia?
Thalassaemia is mainly classified into two types, such as:
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Alpha Thalassaemia
Alpha thalassaemia occurs when the genes responsible for alpha-globin production are missing or damaged. The following are the types of alpha thalassaemia:
- One Faulty or Missing Alpha Gene
Symptoms are usually absent in individuals. This condition is referred to as alpha thalassaemia minima, or a silent carrier state. - Two Faulty or Missing Alpha Genes
If symptoms occur, they are usually mild and may include mild anaemia. This form is known as alpha thalassaemia minor. - Three Faulty or Missing Alpha Genes
This type can cause moderate to severe anaemia, fatigue, an enlarged spleen and other complications. It is also called haemoglobin H disease. - Four Faulty or Missing Alpha Genes
This is the most severe form and is often life-threatening before or soon after birth. This is known as alpha thalassaemia major. Babies born with this condition generally need intensive lifelong medical care.
- One Faulty or Missing Alpha Gene
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Beta Thalassaemia
Beta thalassaemia happens when beta-globin gene production is reduced or absent. The following are the types of beta thalassaemia:
- One Faulty or Missing Beta Gene
This condition is also known as beta thalassaemia minor, or the beta thalassaemia trait. Asymptomatic or mild symptoms may be present, and they are carriers. - Two Faulty or Missing Beta Genes
In two faulty or missing beta genes, symptoms include moderate-to-severe anaemia. This condition is also known as beta thalassaemia major.
- One Faulty or Missing Beta Gene
What are the Symptoms of Thalassaemia?
The symptoms of thalassaemia can vary. It depends on the type and severity of the condition. Some people have mild symptoms, and some have severe symptoms.
Here are the common symptoms of thalassaemia:
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Weak or brittle bones
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Delayed puberty
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Fatigue and weakness
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Poor appetite
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Pale or yellowish skin and mucous membranes
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Yellowing of the eyes (jaundice)
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Dark or tea-coloured urine
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Enlarged spleen
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Irregular facial bone structure
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Growth and developmental issues
The following are the symptoms of various types of thalassaemia:
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Symptoms of Alpha Thalassaemia
Individuals with alpha thalassaemia may experience the following symptoms:
- Changes in the shape of facial and skull bones
- Shortness of breath
- Yellowing of the skin and eyes (jaundice)
- Rapid heartbeat
- Slow growth and delayed development
- Pale skin
- Diabetes caused by damage to the pancreas and endocrine system
- Irritability or mood changes
- Extreme tiredness
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Symptoms of Beta Thalassaemia
Beta thalassaemia does not always cause noticeable symptoms. When they do happen, they are usually linked to anaemia. Common symptoms include:
- Swollen abdomen due to an enlarged spleen
- Fatigue
- Weak or misshapen bones in the arms, legs, and face
- Heart palpitations
- Pale skin
- Shortness of breath
- Frequent headaches
- Yellow skin or eyes (jaundice)
- Dizziness or weakness
- Dark or tea-coloured urine
What Causes Thalassaemia?
Check out the causes of alpha and beta thalassaemia below:
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Causes of Alpha Thalassaemia
The following are the main causes of alpha thalassaemia:
- Reduced Red Blood Cells:Gene changes can affect the body's ability to produce healthy red blood cells and haemoglobin.
- Changes in Alpha-GlobinGenes: Alpha thalassaemia develops due to missing alpha-globin genes inherited from parents.
- Defective Haemoglobin Formation: Improper haemoglobin production may lead to anaemia and oxygen deficiency in the body.
- Family History: A person is more likely to develop thalassaemia if one or both parents carry the affected gene.
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Causes of Beta Thalassaemia
Beta thalassaemia develops mainly due to the following causes, such as:
- Mild Beta Thalassaemia: If one faulty gene is inherited, it may lead to a mild form or carrier state.
- Severe Beta Thalassaemia: You can inherit faulty genes from both parents, which can cause a severe form.
- Low Haemoglobin Levels: Less haemoglobin leads to anaemia.
- Beta-Globin Deficiency: The body can't make enough beta-globin chains.
- Hereditary Disease: The disease is inherited from parents to offspring.
- HBB Gene Mutation: Beta thalassaemia is caused by a mutation in the gene HBB.
What are the Complications of Thalassaemia?
If thalassaemia is left untreated for an extended period of time, then it can lead to several complications in the body, such as:
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Hyperbilirubinaemia: High bilirubin levels lead to jaundice and gallstones.
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Hepatosplenomegaly: Enlargement of the spleen and liver due to extra blood cell production.
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Bone Deformities: Cortical thinning and bony deformity due to extramedullary haematopoiesis.
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Iron Overload: Excess iron deposition due to recurrent blood transfusions.
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Neurological Complications: Neurological complications such as peripheral neuropathies may develop due to nerve damage.
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Cardiac Complications: Severe thalassaemia can cause congestive heart failure and irregular heart rhythms.
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Growth and Puberty Issues: Thalassaemia can slow a child's growth and delay puberty.
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Parvovirus B19 Infection Risk: High risk of parvovirus B19 infection.
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Haemochromatosis-Related: Excess iron can cause primary haemochromatosis, such as endocrine problems, joint problems, and skin colour changes.
When Should I See My Healthcare Provider?
It may be necessary for you to visit your healthcare provider if you observe any of the following:
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Jaundice: In case your skin looks pale or yellow and you notice the white part of the eyes turning yellow.
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Facial Bone Changes: When bones in your face become irregular, changing the structure of your facial bones.
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Liver Infection: If you experience symptoms such as abdominal pain, fever, or fatigue, as these may indicate a liver infection.
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Poor Appetite: When you have lost interest in food or you do not feel like eating anything.
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Dark Urine: If your pee appears dark or tea-coloured. It can be a sign that something's wrong.
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Heart-related Issues: If you experience chest pain, irregular heartbeat, or shortness of breath.
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Iron Overload:If you experience symptoms of iron overload such as fatigue, joint pain, abdominal pain, or weakness,
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Regular Blood Tests: If you have frequent blood count (CBC) tests and iron blood tests.
How is Thalassaemia Diagnosed?
Doctors diagnose thalassaemia through physical examinations, family history assessment, and blood tests. Different types of blood tests are the following:
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Complete Blood Count (CBC) A complete blood count (CBC) helps doctors detect whether you have too many or too few blood cells in the body. This test may also help identify anaemia and monitor overall blood health.
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Haemolysis Tests Haemolysis tests look for various substances in your blood that indicate your red blood cells are breaking down too quickly. These tests may help doctors detect complications linked to thalassaemia.
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Iron Blood Tests Iron blood tests help doctors make sure you do not have iron deficiencies causing anaemia or other related health symptoms. They may also help monitor iron overload caused by repeated blood transfusions.
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Hemoglobin Electrophoresis Haemoglobin electrophoresis helps doctors identify abnormal haemoglobin chains to detect blood-related disorders more accurately and effectively. This test is commonly used to diagnose different types of thalassaemia.
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Genetic Testing Genetic testing identifies faulty genes responsible for thalassaemia and helps confirm whether the condition has been inherited genetically. It may also help determine the severity and type of thalassaemia.
How is Thalassaemia Managed?
Treatment of thalassaemia depends on the type and severity of the condition.
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Management of Alpha Thalassaemia
Alpha thalassaemia can be managed through the following ways:
- Hb Bart Hydrops Fetalis Care: Patients with Hb Bart hydrops fetalis should get care at hospitals. Make informed decisions about things like getting blood transfusions while the baby is still in the womb.
- Laboratory Testing: Complete blood count, reticulocyte count, and liver function tests every 6 months for the first 2 years, then annually. Ferritin and transferrin saturation (TSAT) should be checked annually starting at 1 year.
- HbH Disease Treatment: For people with HbH disease, taking folic acid can be helpful. Some people with severe anaemia may need to get blood transfusions for the rest of their lives. Surgery is usually considered in special cases.
- Mild Alpha Thalassaemia: People who have mild alpha thalassaemia typically do not need any special treatment. It is also important to avoid giving these patients much iron, especially if they have the alpha thalassaemia trait.
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Management of Beta Thalassaemia
Potential ways to manage beta thalassaemia are the following:
- Folic Acid Supplements: These supplements are good, as they help your body to make red blood cells. Your doctor will suggest you take these if you have any case of anaemia.
- Iron Chelation Therapy: Iron chelation therapy is a treatment that helps to lower the iron overload in your body. This can happen when you get a lot of blood transfusions. Iron overload can also hurt your liver and heart badly.
- Luspatercept: It is also called Reblozyl, a drug that helps your body make red blood cells. Doctors use this to treat people with a severe case of beta thalassaemia. They use it when blood transfusions or other medicines do not work.
- Blood Transfusions: Blood transfusions can give you red blood cells so you can have more oxygen in your body. If you have major thalassaemia, you will probably need to get blood transfusions all the time.
- Stem Cell Transplant: It is a treatment that replaces damaged bone marrow with healthy stem cells from a compatible donor. This is usually the best option for individuals suffering from severe beta-thalassaemia.
Thalassaemia During Pregnancy
Women with thalassaemia can have healthy pregnancies if they get the right medical care under some supervision. Although pregnancy can be a bit problematic for women with severe thalassaemia because it can increase the chance of anaemia and heart problems.
Here's what a pregnant woman must follow if diagnosed with thalassaemia:
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They should go to the doctor for prenatal check-ups.
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The doctor should check the iron levels and make sure you don't have any heart-related concerns.
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Pregnant women and their partner should get some counselling sessions about genetics.
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If pregnant women and their partners both have thalassaemia, they should get their baby checked.
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They need to be very careful when they get blood transfusions because women with thalassaemia need to take precautions.
What is the Prognosis for Thalassaemia?
The long-term outlook for thalassaemia majorly depends on how you follow your treatment plan, which includes regular blood transfusions and taking medicine to remove extra iron from your body. Basically, the outlook for thalassaemia depends on how severe it is and how quickly you get treatment.
People with thalassaemia minor can often live without major problems, while people with thalassaemia moderate may need some treatment now and then. Although individuals with thalassaemia major need proper care for their whole lives, they can live longer with modern medicines and treatments.
Can Thalassaemia Be Reversed?
No, thalassaemia is an inherited blood disorder condition and usually cannot be reversed. However, treatments such as blood transfusions, iron chelation therapy and stem cell transplants can help manage symptoms and improve quality of life. Sometimes a bone marrow transplant can offer a possible cure for severe thalassaemia.
How Can I Prevent Thalassaemia?
Thalassaemia cannot be prevented as it is an inherited disease. There are several steps we can take to reduce the risk of passing it, such as:
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Thalassaemia screening is a great idea to detect the condition early for timely treatment.
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Genetic counselling is helpful for couples who have thalassaemia.
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People who have a family history of thalassaemia should go to the doctor for regular health check-ups.
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Awareness about thalassaemia and timely testing can help people make wise healthcare decisions.
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Following proper medical advice and treatment plans can help manage complications effectively.
Does Health Insurance Cover Thalassaemia?
Yes, many health insurance plans in India provide coverage for thalassaemia. It pays for the cost of hospitalisation and OPD expenses incurred during the treatment of such genetic disorders. However, coverage may vary depending on the insurance company and policy terms.
In fact, if thalassaemia is diagnosed after buying the policy, treatment expenses are usually covered after the applicable waiting period. However, if the condition already exists at the time of policy purchase, insurers may treat it as a pre-existing disease, and coverage may begin only after a waiting period that can range from 2 to 4 years, depending on the insurer.
Some medical insurance plans may also provide coverage for specialised treatments such as bone marrow or stem cell transplant, although specific terms, sub-limits, and exclusions may apply.
How Much Health Insurance Coverage is Needed for Thalassaemia Treatment?
Since thalassaemia needs long-term treatment and many hospital visits, it is crucial to have adequate health insurance coverage. In most cases, a cover of around ₹10 lakh to ₹15 lakh is considered suitable for managing the routine treatment and hospitalisation expenses associated with thalassaemia.
However, in severe cases where advanced treatments such as a bone marrow transplant may be required, opting for a higher coverage amount of ₹25 lakh to ₹40 lakh may provide better financial protection.
FAQs
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Q1. What is thalassaemia caused by?
Ans: Thalassaemia is caused by inherited faulty genes that affect the body's ability to produce haemoglobin properly. -
Q2. What is the best treatment available for thalassaemia?
Ans: Treatment may include regular blood transfusions, iron chelation therapy, and, in severe cases, a bone marrow or stem cell transplant. -
Q3. Which foods are considered good for patients with thalassaemia major?
Ans: Foods rich in folic acid, calcium, protein, fruits, and vegetables are generally beneficial for people living with thalassaemia major.
