Thalassemia Major: Symptoms and Treatment

Thalassemia Major, also known as Cooley's anaemia, is a severe blood disorder that affects the body's ability to produce haemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. This genetic condition is characterized by significant anaemia, which can lead to various complications if not managed effectively.

These mutations result in the reduced or absent synthesis of one of the globin chains that make up haemoglobin. Due to the high prevalence of the beta-thalassemia trait in these areas, the disorder is most prevalent in populations from the Mediterranean region, the Middle East, South Asia, and Africa.

Genetic Transmission

The condition is autosomal recessive, which means that an individual must inherit two defective genes, one from each parent, to develop Thalassemia Major. Parents who carry only one defective gene are considered carriers and typically do not exhibit symptoms but can pass the gene to their offspring.

Thalassemia Major Types

The types of Thalassemia Major are classified based on the specific globin chain affected:

Beta-Thalassemia Major

- Mutations in the beta-globin gene cause the most common form.
- Results in the absence or severe reduction of beta-globin production, leading to unbalanced hemoglobin.
- Affected individuals require regular blood transfusions to manage anemia.

Alpha-Thalassemia Major

- Caused by mutations in the alpha-globin gene, leading to severe hemoglobin deficiency.
- The severity of symptoms can range from moderate to severe depending on the number of defective alpha-globin genes.
- It often leads to hydrops fetalis, a condition where the fetus experiences severe swelling and may not survive to birth.

Both types share similar management strategies, including blood transfusions and iron chelation therapy, but the specific genetic mutation determines the overall treatment plan.

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Thalassemia Major Symptoms

Thalassemia Major symptoms usually manifest within the first two years of life. The severity of symptoms can vary, but common signs include:

Severe anaemia, leading to fatigue and weakness
Pale or yellowish skin (jaundice)
Enlarged spleen (splenomegaly) and liver (hepatomegaly)
Bone deformities, particularly in the face and skull
Delayed growth and development in children

These thalassemia major symptoms arise from the body's attempt to compensate for the lack of healthy red blood cells. This leads to excessive iron absorption and deposition in various organs, which can cause further complications.

Thalassemia Major Causes

Genetic Inheritance: Thalassemia Major is inherited in an autosomal recessive manner, meaning a person must inherit two defective genes, one from each parent, to develop the condition.
Beta-Globin Gene Mutation: Most cases of Thalassemia Major are due to mutations in the beta-globin gene, which impairs the production of one of the globin chains needed to form haemoglobin.
Carrier Parents: Thalassemia major patients inherit the disorder when both parents carry the mutated gene. Parents who are carriers usually do not show symptoms but can pass the defective gene to their children.
High Prevalence in Certain Populations: Thalassemia Major is more common in populations from regions like the Mediterranean, South Asia, and the Middle East, where the thalassemia major causes are more prevalent due to higher carrier rates.

Impact of Thalassemia Major on Fertility and Pregnancy

Impact on Fertility

Thalassemia Major can affect fertility, particularly in males. The condition can cause hypogonadism (reduced function of the gonads), leading to low testosterone levels and potential infertility.
In females, while fertility is generally less affected, women with Thalassemia Major may experience irregular menstrual cycles or early ovarian insufficiency due to iron overload impacting the endocrine system.
Iron overload from frequent blood transfusions can damage the organs responsible for hormone production, including the ovaries and testes, contributing to fertility challenges.

Thalassemia Major in Pregnancy

Pregnancy management for women with Thalassemia Major requires careful monitoring due to the risks of iron overload, cardiac complications, and preterm birth.
Iron overload can affect both the mother’s and baby’s health, requiring close monitoring of iron levels and possible use of iron chelation therapy during pregnancy.
Women with Thalassemia Major may have a higher risk of complications such as gestational diabetes, hypertension, and pre-eclampsia, requiring increased medical attention and monitoring.

Diagnosing Thalassemia Major

Early diagnosis of Thalassemia Major is crucial for managing the condition effectively. Diagnosis typically involves a combination of the following:

Blood Tests

Complete blood count (CBC) tests reveal low haemoglobin levels, reduced red blood cell count, and microcytic hypochromic anaemia. Haemoglobin electrophoresis or high-performance liquid chromatography (HPLC) can identify abnormal haemoglobin types, confirming the presence of beta-thalassemia.

Genetic Testing

Genetic testing is used to identify specific mutations in the beta-globin genes, confirming the diagnosis and providing information about the severity of the disorder. This testing is essential for the genetic counselling of affected families.

Prenatal Testing

Prenatal testing, such as chorionic villus sampling (CVS) or amniocentesis, can be performed to determine if a fetus is affected by Thalassemia Major, allowing parents to make informed reproductive decisions.

Thalassemia Major Treatment

Management of Thalassemia Major focuses on alleviating symptoms, preventing complications, and improving the patient's quality of life. Treatment strategies include

Regular Blood Transfusions

The cornerstone of Thalassemia Major treatment is regular blood transfusions to maintain adequate haemoglobin levels and prevent severe anaemia. Transfusions are typically required every 2-4 weeks, depending on the individual's needs.

Iron Chelation Therapy

Frequent blood transfusions lead to iron overload, as the body has no natural mechanism to excrete excess iron. Iron chelation therapy, using medications such as deferoxamine, deferasirox, or deferiprone, helps remove excess iron from the body and prevents complications such as cardiac and liver damage.

Splenectomy

In some cases, an enlarged spleen may need to be surgically removed (splenectomy) to reduce the rate of red blood cell destruction and improve the efficacy of blood transfusions.

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Bone Marrow Transplantation

Bone marrow or stem cell transplantation offers a potential cure for Thalassemia Major, as it can restore the body's ability to produce healthy red blood cells. However, this procedure carries significant risks and is typically reserved for patients with a suitable donor, usually a matched sibling.

Potential Complications of Thalassemia Major

Thalassemia Major can lead to various complications, including:

Heart disease: Iron overload can lead to cardiomyopathy and heart failure.
Liver disease: Excess iron deposition can cause liver cirrhosis and fibrosis.
Endocrine disorders: Iron overload can affect hormone production, leading to diabetes, hypothyroidism, and delayed puberty.
Increased risk of infections: Splenectomy and frequent transfusions can increase susceptibility to infections.

Prognosis and Quality of Life

Advancements in treatment have significantly improved the prognosis for individuals with Thalassemia Major. With regular transfusions and effective iron chelation therapy, many patients can lead relatively everyday lives. However, lifelong management is necessary to prevent complications and maintain optimal health.

Ongoing Research and Future Directions

Research into gene therapy and novel iron chelation agents holds promise for further improving the management of Thalassemia Major. Gene therapy aims to correct the underlying genetic defect, potentially offering a cure without the risks associated with bone marrow transplantation.

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Frequently Asked Questions

The life expectancy of someone with thalassemia major varies but can be improved with regular blood transfusions, iron chelation therapy, and bone marrow transplant. Proper treatment at Medicover Hospitals can enhance quality of life.

Thalassemia major affects red blood cell production, leading to anemia, fatigue, and organ damage. Ongoing treatment and monitoring at Medicover Hospitals can manage symptoms and prevent complications.

Yes, thalassemia major is serious and can cause life-threatening complications like organ damage and severe anemia. Early diagnosis and treatment at Medicover Hospitals help manage the disease effectively.

With thalassemia major, the body struggles to produce normal hemoglobin, causing severe anemia. Regular blood transfusions, iron management, and proper care at Medicover Hospitals are essential to manage the condition.

Thalassemia major is a severe form requiring blood transfusions for survival, while thalassemia minor is a mild form, often asymptomatic or with minimal symptoms. Medicover Hospitals can guide diagnosis and treatment.

With proper care, including regular blood transfusions and iron management, individuals with thalassemia major can live into their 40s or longer. Medicover Hospitals helps manage these treatments effectively.