A Complete Guide to Thalassemia: From Causes to Care

• Written by Leena Khowal

  Reviewed by Ritika Malik

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Blood is the body's lifeline, carrying oxygen and nutrients to every cell in the body. At the heart of this process is haemoglobin, a vital protein found in red blood cells. But when the body cannot make enough healthy haemoglobin, it leads to serious health challenges. One such condition is Thalassemia, a genetic blood disorder that affects millions of people worldwide. Many individuals may not even know they carry the trait, while others experience symptoms ranging from mild anaemia to severe complications that require lifelong treatment.

By learning about its causes, types, symptoms, and treatment options, we can raise awareness, encourage timely diagnosis, and improve the quality of life for people affected by this condition.

For a better understanding of this medical condition, please continue reading the blog until the end.

What is Thalassemia?

Thalassemia is a genetic disorder that affects the production of haemoglobin, which is a protein that carries oxygen in red blood cells. The risks of these types vary, leading to mild, moderate, or severe haemoglobin deficiency.

Insufficient haemoglobin production can cause anaemia, which leads to fatigue, weakness, and shortness of breath. However, some individuals may not exhibit thalassemia symptoms. Severe cases are typically diagnosed within the first two years of life. While thalassemia is a lifelong condition, advanced treatments have increasingly improved life expectancy and quality of life.

Types of Thalassemia

Thalassemia is a genetic disorder that affects haemoglobin production in red blood cells. There are two different types of thalassemia: alpha-thalassemia and beta-thalassemia. Each has subtypes ranging from mild to severe:

Alpha-Thalassemia

• Silent Carrier: One mutated gene (a gene that has undergone a permanent change in its DNA sequence); usually no symptoms.
• Alpha-Thalassemia Trait: Two mutated genes; mild anaemia, minimal symptoms.
• Haemoglobin H Disease: Three mutated genes, which cause moderate to severe anaemia, with symptoms including fatigue, weakness, and jaundice.
• Alpha-Thalassemia Major (Haemoglobin Bart's Hydrops Fetalis Syndrome): Four mutated genes; severe anaemia, heart failure, and other life-threatening complications.

Beta-Thalassemia

• Beta-Thalassemia Trait: One mutated gene; mild anaemia, minimal symptoms.
• Beta-Thalassemia Intermedia: Two mutated genes; moderate anaemia, symptoms include fatigue, weakness, and bone deformities.
• Beta-Thalassemia Major (Cooley's Anaemia): Two severely mutated genes; severe anaemia, which requires regular blood transfusions, and other complications like bone deformities and heart problems.

Symptoms of Thalassemia

Understanding thalassemia symptoms is crucial for seeking timely treatment and better managing the disease. Here are some of the common symptoms you must be mindful of:

• Performing everyday tasks, such as grocery shopping or household chores.
• Maintain a regular work schedule or meet deadlines.
• Engaging in physical activities, such as exercise or sports.
• Concentrate or focus on mental tasks.
• Walking short distances.
• Climbing stairs.
• Carrying light loads.
• Engaging in leisure activities, such as gardening or yoga.
• Skin may appear pale, yellowish, or greyish.
• Lips may appear pale or bluish.
• Nail bed, which may appear pale or brittle.

Thalassemia symptoms in adults:

• Dizziness can occur when standing up quickly, changing positions, or engaging in physical activities
• Fainting can occur due to severe anaemia, dehydration, or other underlying medical conditions.
• Anaemia, which can lead to inadequate oxygen delivery to the brain
• Dehydration, which can exacerbate anaemia
• Stress, anxiety, or fatigue
• Underlying medical conditions, such as hypertension or migraines

It's essential to seek medical attention if you're experiencing any of these thalassemia symptoms. Consult a haematologist for guidance and thalassemia treatment. You can also purchase a Health Insurance Plan that offers OPD benefits to you and your family, allowing you to access the best health consultations. Your Health Insurance Plan with Care Health Insurance can provide you with benefits like:

• Pre and post-hospitalisation coverage
• Annual health checkup
• No claim bonus
• Room rent and ICU charges
• It's advisable to choose a plan that caters to your needs and alleviates financial stress.

Causes of Thalassemia

Several factors contribute to the development of thalassemia; here are they:

• Genetic Mutation: Thalassemia is caused by mutations in the DNA of cells that produce haemoglobin.
• Inherited Condition: Passed from parents to children if one or both carry the defective gene.
• Defective Haemoglobin Production: Leads to reduced or abnormal haemoglobin, affecting oxygen transport.
• Both Parents as Carriers: If both parents carry the thalassemia trait, the child has a higher risk of severe disease.
• Geographical Predisposition: More common in people from South Asian, Italian, Greek, Middle Eastern, South Asian, and African regions.

Thalassemia Diagnosis

Your healthcare provider may order the following tests to diagnose whether you or your child has thalassemia:

• Complete Blood Count (CBC): Measures haemoglobin levels and counts of different blood cells. People with thalassemia typically have fewer healthy red blood cells and lower haemoglobin levels. Red blood cells may appear smaller and show signs of disease under a microscope.
• Special Haemoglobin Tests: Identify the types of haemoglobin in a blood sample, helping to distinguish between conditions caused by haemoglobin problems.
• Genetic Testing: Helps determine the specific type of thalassemia.

Thalassemia Treatment

Here are some common approaches used in thalassemia treatment, ranging from regular blood transfusions and iron chelation to advanced options such as stem cell transplantation.

Blood Transfusions

Blood transfusions are used for the thalassemia treatment. This procedure involves receiving healthy red blood cells with normal haemoglobin levels. The frequency of blood transfusions varies depending on the severity of the condition:

• Occasional Transfusions: For individuals with haemoglobin H disease or beta thalassemia intermedia, transfusions may be needed during periods of stress, such as infections, pregnancy, or surgery.
• Regular Transfusions: For those with beta thalassemia major, regular transfusions (every 3-4 weeks) are necessary to maintain healthy haemoglobin and red blood cell levels.

Iron Chelation Therapy

Regular blood transfusions can also cause iron overload, which can lead to life-threatening complications. To prevent this, iron chelation therapy is used to remove excess iron from the body. Three medications are available:

• Deferasirox: A daily pill with potential side effects like skin rash, nausea, and diarrhoea.
• Deferiprone: A pill used if other treatments are ineffective, but it can lower white blood cell counts, increasing the risk of infections.
• Deferoxamine: A liquid medication administered under the skin, usually overnight, using a portable pump.

Blood And Bone Marrow Transplant

A blood or bone marrow transplant replaces damaged stem cells with healthy donor cells. A blood or bone marrow transplant is the only thalassemia treatment. However, it’s essential to find a suitable donor match, which is quite challenging because only a few individuals with severe thalassemia are eligible for this procedure.

Other Treatments

Additional treatments may be used:

• Luspatercept (Reblozyl): A medication that can reduce the need for blood transfusions in individuals with moderate to severe anaemia.
• Hydroxyurea: A medication typically used to treat sickle cell disease, which can help minimise health complications associated with thalassemia.
• Splenectomy: It’s a surgery that helps to remove the spleen, which may be recommended to improve symptoms in individuals with mild to moderate thalassemia. However, this procedure increases the risk of infections.

>> Also Read: Does Health Insurance Cover Treatment of Genetic Disorders?

Final Words

While thalassemia is a serious condition, understanding its types, symptoms, and treatment options can help individuals and families affected by the disease. With advanced medical treatment, care, and management, people with thalassemia can live active and fulfilling lives. Therefore, it's essential to raise awareness about thalassemia, promote genetic counselling, and support research for better treatment options. By working together, we can definitely improve the lives of those affected by thalassemia symptoms and bring hope to families impacted by this condition.

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