Symptoms and Complications Associated with Various Types of Thalassemia

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types of thalassemia

Medical tourism tends to offer a blend of world-class care & affordability, which lures patients from across the globe seeking treatments abroad. – By Dr. Amit Sharma (Medical Tourism Expert)

 

Thalassemia: A Statistical Overview 

Thalassemia happens to be a group of inherited blood disorders that are characterised by abnormal haemoglobin production, resulting in anaemia. As per WHO (World Health Organization), thalassemia tends to affect nearly five percent of the world population today, with the highest prevalence in areas like the Mediterranean, the Middle East, Southeast Asia, & India. Types of thalassemia tend to vary depending on the nature of the genetic mutations that affects haemoglobin. Understanding the different types of thalassemia and how they manifest is crucial for correct diagnosis & right treatment protocol.

 

Types of Thalassemia & Their Differences

There are 2 major types of thalassemia: alpha thalassemia & beta thalassemia. These are based on the specific genetic mutations, which happen in the haemoglobin molecule that’s responsible for carrying oxygen throughout the body. Both types can result in various levels of severity, depending on whether the person inherits 1 or 2 mutated genes from their parents. The primary difference between the 2 types lies in the part of the haemoglobin gene that is mutated.

  1. Alpha Thalassemia: This type tends to involve a mutation in the alpha-globin chain genes. It happens to be more common in the Middle East, Southeast Asia, & parts of Africa. Alpha thalassemia can range from mild to severe, and the severity depends on the number of the four alpha-globin genes that are affected.
  2. Beta Thalassemia: This type tends to involve mutations in the beta-globin gene. It is more prevalent in the Middle East, the Mediterranean region, & South Asia. Beta thalassemia can be more severe & needs careful management.

 

Symptoms & Complications Linked to Various Types of Thalassemia

The severity of thalassemia symptoms largely depends on whether the person has inherited 1 or 2 defective genes. Those with 1 defective gene usually show mild symptoms or none at all. But persons with 2 defective genes might suffer from severe symptoms, which affect multiple organ systems. Common symptoms of thalassemia include weakness, fatigue, pale or jaundiced skin, slow growth, & bone deformities. Over time, complications can arise, like organ enlargement (specifically the spleen & liver), iron overload because of frequent blood transfusions, & cardiovascular issues. Let us take a closer look at the various forms of thalassemia:

 

Beta Thalassemia

Beta thalassemia is caused by mutations in the HBB gene, which affects the production of the beta-globin chain of haemoglobin. There are 2 major forms of beta thalassemia:

  1. Beta Thalassemia Minor: Persons with 1 mutated gene show mild symptoms or may even be asymptomatic. The issue is usually diagnosed through a blood test.
  2. Beta Thalassemia Major: This severe form needs lifelong management & regular blood transfusions. Without proper treatment, individuals with beta thalassemia major can face serious complications like skeletal deformities, growth retardation, & organ damage because of iron overload.

 

Alpha Thalassemia

Alpha thalassemia results from mutations in the alpha-globin gene. Unlike beta thalassemia that has 2 major types, alpha thalassemia has several variations depending on the number of the four alpha-globin genes that are affected:

  • Alpha Thalassemia Silent Carrier: When one gene is mutated, the person is usually asymptomatic.
  • Alpha Thalassemia Minor: This involves 2 mutated genes & may cause mild anemia, but persons can usually lead normal lives.
  • Hemoglobin H Disease: With 3 mutated genes, this form causes moderate to severe symptoms like pale skin, fatigue, & enlargement of the spleen.
  • Alpha Thalassemia Major (also called Hydrops Fetalis): This is the most severe form, where all 4 genes are mutated. It is usually fatal before or shortly after birth because of severe anemia.

 

Thalassemia Major vs Minor

The distinction between thalassemia major vs minor is critical for correct diagnosis & right treatment. Thalassemia major refers to the severe form of the disease, where individuals inherit 2 defective genes, resulting in serious health complications, which need extensive medical care. On the other hand, thalassemia minor involves only 1 mutated gene, which often leads to mild or no symptoms at all, with little or no medical intervention needed.

 

Causes of Thalassemia

The causes of thalassemia lie in genetic mutations in the haemoglobin genes. If both parents carry the defective gene, child inherits the disease. Beta thalassemia is most commonly caused by mutations in the HBB gene that is located on chromosome 11, while alpha thalassemia arises from mutations in the alpha-globin genes that are located on chromosome 16.

 

Symptoms of Thalassemia in Adults

Adults with thalassemia may experience a range of symptoms depending on the type & severity of the disease. Beta thalassemia symptoms include weakness, fatigue, & pale skin, while alpha thalassemia symptoms might include mild anemia or enlargement of the spleen & liver. For both types, regular blood transfusions might be needed for managing anaemia & preventing complications.

 

Alpha Thalassemia Symptoms

Alpha thalassemia symptoms can vary depending on the number of affected alpha-globin genes. Those with alpha thalassemia minor might be having no symptoms at all, while individuals with haemoglobin H disease may experience fatigue, moderate anemia, & an enlarged spleen. Alpha thalassemia major, the most severe form, results in fetal or neonatal death because of severe anemia.

 

Beta Thalassemia Symptoms

Beta thalassemia symptoms are usually more pronounced in the major form of the disease. Common signs tend to include severe anaemia, pale skin, fatigue, & skeletal deformities because of bone marrow expansion. Iron overload from frequent blood transfusions can result in organ damage, especially in the heart & liver.

 

Differences Between Alpha and Beta Thalassemia

The main differences between alpha and beta thalassemia are related to the specific globin chains affected (alpha-globin versus beta-globin) & the number of genes involved. Alpha thalassemia usually causes milder symptoms compared to beta thalassemia, although the severity can increase depending on the number of affected genes.

 

Thalassemia vs Anemia

While thalassemia shares some symptoms with other forms of anaemia, like fatigue & weakness, it differs in its cause. Thalassemia is a genetic disorder, which results in defective haemoglobin production, whereas anaemia can result from different causes like chronic disease, iron deficiency, or blood loss.

 

Thalassemia Diagnosis

Thalassemia diagnosis usually involves blood tests like a complete blood count (CBC), haemoglobin electrophoresis, and genetic testing. These tests help determine the type of thalassemia & the severity of the condition, guiding the treatment approach.

 

Hemoglobin and Thalassemia

Haemoglobin is the protein in red blood cells (RBCs), which carry oxygen. In thalassemia, the production of haemoglobin is hindered because of defective globin chains, resulting in reduced oxygen transport & anaemia. The HBB gene mutation plays a crucial role in beta thalassemia, while mutations in alpha-globin genes cause alpha thalassemia.

 

Thalassemia Treatment in India

India tends to offer world-class treatment options for thalassemia, including blood transfusions, iron chelation therapy, & bone marrow or stem cell transplants. Many hospitals & medical centres here specialise in thalassemia treatment with advanced technologies & expert care teams. The cost of these treatments is usually much more affordable than in many other developed nations, making India an attractive destination for medical tourism.

 

Cost of Thalassemia Treatment in India Compared to Developed Nations

The cost of thalassemia treatment in India is generally lower than in many Western countries, thanks to the availability of high-quality care at more affordable costs. This makes India a leading choice for medical travel, specifically for thalassemia treatment. While the cost of bone marrow transplants & other advanced therapies may still be significant, it is usually much less expensive than in the United States of America, parts of Europe, & Australia.

 

Health Trawell, Has You Sorted in India

India can be your go-to medical treatment destination for different types of thalassemia. Health Trawell stands out as the premier medical travel agency in India, offering personalised services for foreign patients seeking affordable & quality thalassemia treatment here. Our company assists international patients in finding the best hospitals, coordinating travel arrangements, and providing support throughout the treatment process. Our expertise in medical tourism ensures a seamless experience for patients from start to finish. Contact Health Trawell for affordable thalassemia treatment in India and experience world-class medical care at a portion of the cost as paid otherwise in many developed countries of the world.

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