Thalassemia: Types, Causes, Symptoms, Treatment, Cost, and Success Rate

Thalassemia is a genetic blood disorder that disrupts the vital production of hemoglobin. Hemoglobin in red blood cells transports oxygen to our cells. A deficiency in hemoglobin and red blood cells within the body can lead to anemia, a condition known for causing fatigue, weakness, and shortness of breath, as our body’s cells don’t get enough oxygen. You can read about thalassemia treatment, cost, types etc. below in this page.

Thalassemia affects approximately 4.4 out of every 10,000 live births worldwide, with significant prevalence in countries such as Iraq, Uzbekistan, Bangladesh, Pakistan, Nigeria, Liberia, etc. It goes by various names in different forms, such as Constant Spring, Cooley’s anemia, or hemoglobin Bart’s hydrops fetalis.

The condition of thalassemia is inherited from the family, which means it is passed down from parents to children via their DNA. There are two types: alpha and beta thalassemia, both of which have various forms that affect people differently. Mild cases may not require much treatment, but severe cases often require regular blood transfusions.

India provides the best thalassemia treatment through specialized hospitals and advanced medications. Some of the best hospital for thalassemia treatment in India ensures complete care for individuals suffering from this condition.

Furthermore, the prevalence of thalassemia is higher in specific ethnic groups, such as Southeast Asians, Middle Easterners, individuals of African heritage for alpha-thalassemia, and those of Mediterranean origin for beta-thalassemia. Patients seeking the best thalassemia treatment in India may find a variety of therapies and treatments to effectively manage this hereditary disease.

Types of Thalassemia

Alpha-Thalassemia: Alpha-thalassemia is a genetic condition caused by a mutation in one or more of the four alpha-globin genes. These genes are responsible for producing alpha-globin chains that combine with beta-globin chains to produce hemoglobin. The severity of alpha-thalassemia depends on how many alpha-globin genes are damaged. Different types of alpha-thalassemia:

Silent Carrier: Individuals with one mutated alpha-globin gene usually show no symptoms.
Alpha-Thalassemia Trait: Two mutated genes can lead to mild anemia.
Hemoglobin H Disease: Three mutated genes cause moderate to severe anemia and may require regular blood transfusions.
Alpha-Thalassemia Major: When all four genes are mutated, it results in a life-threatening condition requiring lifelong blood transfusions.

Beta-Thalassemia: Beta-thalassemia affects the beta-globin genes, which are responsible for creating beta-globin chains. It is divided into three main types:

Beta-Thalassemia Minor: People with this type often have one mutated gene and suffer from mild anemia.
Beta-Thalassemia Intermedia: People with two mutated genes may have moderate to severe anemia, but it is less severe than beta-thalassemia major.
Beta-Thalassemia Major (Cooley’s Anemia): This is the most severe type, characterized by the mutation of both beta-globin genes. Patients require lifelong blood transfusions and iron chelation therapy to manage excess of iron.

Delta-Beta Thalassemia (Hb Lepore): Delta-beta thalassemia is an uncommon subtype caused by mutations in the delta-globin and beta-globin genes. It can induce moderate to severe anemia, which can be treated with blood transfusions and iron chelation.

Epsilon-Gamma-Delta-Beta Thalassemia: Another uncommon type that affects several globin genes can cause a variety of symptoms, ranging from moderate anemia to serious problems.

Symptoms of Thalassemia

Thalassemia comprises a range of genetic blood disorders, and the symptoms can vary depending on the specific type and its severity. Common symptoms of thalassemia are:

Fatigue
Weakness
Pale skin
Facial bone deformities
Slow growth
Abdominal swelling
Dark urine
Trouble breathing
Feeling cold
Dizziness
Pounding or irregular heartbeats (palpitations)
Jaundice
Enlarged speen

Risk Factors Associated with Thalassemia

Family History: Mutated hemoglobin genes allow thalassemia to be transferred from parents to children.
Ancestry: Thalassemia is more common in people of Mediterranean, African, and Southeast Asian descent.
Delayed Growth: Thalassemia major and severe can cause growth delays in children.
Gallstones: It can cause small stones in the gallbladder, leading to gallbladder inflammation, stomach ache, and jaundice.
Unusual Bone Growth: Some types of thalassemia can cause abnormal bone growth, resulting in an enlarged forehead or cheeks.
Weak Bones: Thalassemia may cause weak and fragile bones (osteoporosis).
Reduced Fertility: Some individuals with thalassemia may experience reduced fertility and may require fertility treatment to have children.
Heart and Liver Problems: Untreated thalassemia major can lead to heart failure and liver problems, as well as an increased risk of infections.
Blood Transfusions: While blood transfusions can help reduce symptoms, there is a risk of iron excess, which can lead to further problems.

Diagnosis of Thalassemia

Thalassemia symptoms tend to develop at a young age, and blood tests can detect it during pregnancy or shortly after birth. These tests can also determine whether you have the thalassemia trait, which might harm your child in future.

Complete Blood Count (CBC): This test measures the levels of hemoglobin and red blood cells in your blood.
Reticulocyte Count: It assesses the production of young red blood cells from the bone marrow.
Iron Studies: These tests help differentiate between iron deficiency anemia and thalassemia.
Hemoglobin Electrophoresis: This advanced test identifies unusual types of hemoglobin in the blood to detect beta-thalassemia.
Genetic Testing: Genetic tests are employed to diagnose alpha thalassemia, as they can detect specific genetic mutations associated with the condition.

Screening during Pregnancy: Blood testing can also identify thalassemia during pregnancy. Pregnant women are examined to see if they have the thalassemia trait, and if both parents have it, additional tests can be performed to determine the chance of their baby being born with thalassemia.

Testing after Birth or Later in Life: Although newborns are not routinely examined for thalassemia, it can be detected by newborn blood spot tests. A blood test can be used to diagnose thalassemia in older children or adults who show symptoms.

India’s dedication to offering the best thalassemia treatment is evident in its comprehensive diagnostic approach.

Treatment Options of Thalassemia

There are numerous options for thalassemia treatment in India to properly address this inherited blood condition.

Common Treatments for Thalassemia:

Blood Transfusions: The standard treatment for thalassemia is regular blood transfusions. These transfusions provide healthy red blood cells and hemoglobin.
Iron Chelation Therapy: Iron chelation therapy is often used to treat iron overload caused by constant transfusions. It helps in the removal of excess iron from the body and the prevention of organ damage.
Folic Acid Supplements: Folic acid supplements are prescribed as they help the body to produce healthy blood cells.

Less Common Treatments for Thalassemia:

Bone Marrow or Stem Cell Transplant: While effective, this is a rare and high-risk treatment option that is usually reserved for the most severe patients. It involves obtaining stem cells from a compatible donor to repair damaged blood cells.
Luspatercept: Luspatercept is a newly developed and less common injection medication that increases red blood cell formation and is licensed for certain types of thalassemia.
Hormone Therapy: Hormone therapy may be recommended in cases of hormonal imbalances. It can help with problems including delayed puberty and low hormone levels.
Vaccinations and Antibiotics: To manage infections, vaccinations and antibiotic medications are given.
Thyroid Hormone Replacement: If the thyroid grows, thyroid hormone replacement therapy may be performed.
Bisphosphonates: These medications can be used to strengthen bones, particularly in people who have bone abnormalities due to thalassemia.

Complications of Thalassemia

Thalassemia, if left untreated, can lead to various complications:

Heart Failure: Thalassemia major can cause heart problems which can lead to heart failure if not treated properly.
Liver Problems: Excess iron accumulation, whether caused by the disease or frequent blood transfusions, can be harmful to the liver.
Iron Overload: An excess of iron can harm the heart, liver, and endocrine system, which controls hormones and bodily functions.
Frequent Infections: Individuals receiving frequent blood transfusions may be at a higher risk of infections.

Life Expectancy with Thalassemia

Individuals with thalassemia have differing life expectancies depending on the severity of the disease and how effectively it is managed, highlighting the importance of the best thalassemia treatment in India:

Mild Thalassemia: Those with mild forms of thalassemia can generally expect a normal life span.
Moderate or Severe Thalassemia: People with moderate or severe thalassemia have a fair chance of long-term survival if they follow their treatment plan, which includes blood transfusions and iron chelation therapy.
Heart Disease Risk: Heart disease, which occurs because of iron overload, is the major cause of death in thalassemia patients. As a result, regular iron management by chelation therapy is important for increasing life expectancy.

Cost of Thalassemia treatment in India

The thalassemia treatment cost in India can vary based on several factors. Some points regarding the cost of Thalassemia treatment in India:

Cost of Blood Transfusions: Each blood transfusion may cost around 13,000 INR (160 USD approx.).

Bone Marrow Transplant Cost: The thalassemia bone marrow transplant cost in India procedures can vary depending on the type:

Autologous Bone Marrow Transplant: 16,000 – 25,000 USD
Allogenic Bone Marrow Transplant: 25,000 – 38,000 USD
Haplo Bone Marrow Transplant: 37,500 – 50,000 USD
Unrelated Bone Marrow Transplant: 60,000 – 90,000 USD

The Thalassemia treatment cost in India includes a 15-day hospital stay followed by 90 days of outpatient care in India. The complete Thalassemia treatment cost in India varies and is largely influenced by factors such as diagnosis and hospital selection. Because of its well-deserved reputation for providing affordable medical care, India is a popular destination for Thalassemia treatment in India among medical tourists. Preoperative diagnostics, the procedure itself, treatment choices (such as chelation therapy, stem cell therapy, and blood transfusion), post-operative costs (including follow-up appointments), medication, and the patient’s hospital stay are all included in this full Thalassemia treatment cost in India.

Best Hospitals for Thalassemia Treatment in India

The best Thalassemia hospital in India is distinguished by its outstanding services and advanced treatments. These hospitals have top-tier specialists and cutting-edge technology to treat Thalassemia patients with the best care available. They are well-known for their expertise and are often regarded as providing effective treatment.

Kokilaben Dhirubhai Ambani Hospital, Mumbai
Indraprastha Apollo Hospital, New Delhi
Apollo Hospitals, Jubilee Hills Hyderabad
Manipal Hospital (Old Airport Road), Bangalore
Apollo Hospitals, Greams Road, Chennai
Fortis Hospital, Bangalore (Bannerghatta Road)
Apollo Gleneagles Hospital, Kolkata
Fortis Memorial Research Institute, Gurgaon
Medanta – The Medicity, Gurgaon
Artemis Hospital, Gurgaon

Top Doctors for Thalassemia Treatment in India

A world-renowned team of thalassemia doctors in India dedicated to providing excellent care may be found in India. These best thalassemia doctors in India are well-known for their skill in detecting and managing this blood disease; ensuring patients receive the most advanced and compassionate care possible.