INTRODUCTION:
Thalassemia symptoms and treatment are essential to understand when dealing with this inherited blood disorder. From fatigue and pale skin to serious complications, recognizing the early signs can lead to timely diagnosis. With modern medicine and ongoing research, managing thalassemia is more hopeful than ever.
It has also been observed that some people with thalassemia might have only mild symptoms. On the other hand, some thalassemia patients can experience heart failure and even an early death. But most people with thalassemia can expect to live as long as those who don’t have the condition, as long as they keep up with their treatments. New thalassemia treatments, on the other hand, also mean that people who have it are living longer with fewer symptoms. Additionally, one must keep in mind that the gene mutations that cause thalassemia arose in humanity as partial protection against malaria. So, thalassemia affects people who have ancestral links to parts of the world where malaria is prevalent, such as Africa, Southern Europe, Western, Southern, and Eastern Asia. It is also essential to note that thalassemia is inherited, which means the condition is passed from a biological parent to their child.
WHAT IS THALASSEMIA?
Thalassemia is a genetic blood disorder that affects the body’s ability to produce haemoglobin, the protein in red blood cells responsible for carrying oxygen. This leads to anemia, fatigue, and other health-related complications. In India, over 10,000 children are born with thalassemia major every year, and millions are carriers, often unknowingly. To put it briefly, thalassemia is most common in Asia, the Middle East, Africa, and Mediterranean countries such as Greece and Turkey.
WHAT CAUSES THALASSEMIA?
Thalassemia is due to inherited mutated genes of the subunits of a haemoglobin molecule. A haemoglobin molecule has two pairs of two globin chains called alpha–globin and beta–globin. Defects or the absence of these genes are the direct cause of thalassemia. Therefore, the severity of the disorder depends on the number of missing and or mutated genes. In sum, thalassemia is inherited and it is passed from parents to children through mutations in the HBB gene. Both thalassemia carriers and patients can transmit their defective genes to their descendants.
WHAT ARE THE DIFFERENT TYPES OF THALASSEMIA?
As per haematologists, there are three main types of thalassemia and four subtypes:
- Beta thalassemia, which includes the subtypes major and intermedia, affects beta–globin protein production.
- Alpha thalassemia, which includes the subtypes haemoglobin H and hydrops fetalis, affects alpha–globin protein production.
- Thalassemia minor occurs when a person inherits one mutated gene for thalassemia from only one parent, while the other gene is normal.
WHAT ARE THE SYMPTOMS OF THALASSEMIA?
The symptoms depend on the type of thalassemia and how serious it is.
- Tiredness or fatigue
- Weakness
- A change in skin colour, such as yellowing of skin and eyes.
- Changes or problems with facial bones (facial bone deformities) due to marrow expansion.
- Slow growth.
- Swelling of the abdomen.
- Dark urine.
- Poor appetite.
- Enlarged spleen (splenomegaly).
- Shortness of breath
- Anemia
- Hepatomegaly (enlarged liver).
Some babies show symptoms of thalassemia at birth. Others get symptoms during the first two years of life. But some people with thalassemia don’t have or show any symptoms.
DIAGNOSIS FOR THALASSEMIA:
Most children with moderate to severe thalassemia show symptoms within their first two years of life. Blood tests (complete blood count, i.e., CBC, which measures the levels of different components in the blood, including red blood cells, hemoglobin, and other markers) can reveal the number of red blood cells and irregular changes in their size, shape, or color. Blood tests can also be used to look for gene changes in DNA. In patients with thalassemia, the CBC typically shows:
- Microcytic anemia, meaning the red blood cells are smaller than normal.
- Hypochromia, which means the cells have less color, is indicative of reduced hemoglobin content.
- Decreased hemoglobin level compared to normal ranges, often showing a low mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH).
- NESTROFT (Naked Eye Single Tube Red Cell Osmotic Fragility Test) is a low-cost screening test used in many rural health centers.
Peripheral Blood Smear:
A peripheral blood smear is another important diagnostic tool. Under the microscope, the blood smear from a person with thalassemia may show target cells, anisopoikilocytosis (variation in the size and shape of red blood cells), and basophilic stippling (small, dark-blue granules within red blood cells), which are suggestive of the disorder.
Hemoglobin Electrophoresis:
One of the most definitive tests for diagnosing thalassemia is hemoglobin electrophoresis. This test separates different types of hemoglobin based on their electrical charge and allows for the identification of abnormal hemoglobin patterns. In beta-thalassemia, the test typically shows an increased level of fetal hemoglobin (HbF) and a reduced or absent level of adult hemoglobin (HbA). In alpha-thalassemia, the hemoglobin electrophoresis results may show abnormalities such as HbH or HbS.
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Iron Studies:
Thalassemia patients often have iron overload due to repeated blood transfusions. Iron studies, including serum ferritin levels, can help differentiate between thalassemia and other forms of anemia, such as iron deficiency anemia. In thalassemia, iron levels are often elevated, while in iron deficiency anemia, iron stores are typically low.
Genetic Testing:
For a conclusive diagnosis and to determine the specific type of thalassemia, genetic testing or DNA analysis can be performed. This is particularly useful in identifying carrier status in individuals who may not show symptoms of the disease but can pass the gene onto their children. Genetic testing can identify mutations in the alpha-globin or beta-globin genes, which are responsible for the different forms of thalassemia. In the case of beta-thalassemia, mutations can result in either a complete absence of the beta-globin chain (thalassemia major) or a reduced production (thalassemia intermedia or minor). For alpha-thalassemia, mutations can cause the deletion of one or more of the alpha-globin genes.
Prenatal Diagnosis:
Moreover, prenatal testing can also be done before a baby is born to find out if the baby has thalassemia. Testing can also determine how serious the condition might be. Tests used to find thalassemia in unborn babies include:
- Chorionic villus sampling. This test involves removing a tiny piece of the placenta. The placenta is the organ that forms during pregnancy to give a baby oxygen and nutrients in the womb. Once removed, the placenta sample is checked by a lab. Most often, it’s done around the 11th week of pregnancy.
- This test involves checking a sample of the fluid that surrounds the unborn baby in the womb. The test is usually done around the 16th week of pregnancy.
Early detection allows for counseling and appropriate management decisions, including the option of early interventions or even decisions regarding pregnancy.
Confirmatory Diagnosis:
While the clinical features and laboratory findings strongly suggest thalassemia, confirmatory diagnosis is achieved through a combination of tests:
- Hemoglobin electrophoresis provides the most definitive diagnosis in distinguishing between different types of thalassemia and other hemoglobinopathies.
- Genetic analysis offers a precise identification of the genetic mutations, especially in complex cases or to confirm the carrier status in individuals.
MANAGEMENT AND TREATMENT:
While there is no universal cure, effective management can significantly improve quality of life.
- Blood Transfusions:
- Lifelong and regular transfusions are needed for thalassemia major patients.
- Access remains a challenge in rural areas due to blood bank shortages.
- Iron Chelation Therapy:
As blood transfusions are a cornerstone of thalassemia management, they often lead to iron overload, a condition where excess iron builds up in the body, particularly in the liver, heart, and endocrine glands. Iron overload can be life-threatening if not addressed. To prevent this, patients undergoing regular transfusions need to undergo iron chelation therapy, a treatment designed to remove excess iron from the body.
- Essential to manage iron overload from transfusions.
- Cost remains a barrier for many families.
- Bone Marrow Or Stem Cell Transplant:
For some patients, especially younger individuals, bone marrow or stem cell transplantation offers a potential cure for thalassemia. This treatment involves replacing the patient’s bone marrow (which produces blood cells) with healthy marrow from a compatible donor, usually a sibling. Successful bone marrow transplants can eliminate the need for lifelong blood transfusions. However, this procedure carries significant risks, including graft-versus-host disease, infection, and rejection, and it is generally considered only for patients with severe forms of thalassemia.
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- The only curative option but expensive (~₹10–25 lakhs).
- Requires a matched sibling donor and is limited to urban centers.
- Other Support:
- Folic acid supplements
- Infection control and vaccinations
- Psychological and nutritional support
- Gene Therapy:
Gene therapy is an emerging and promising treatment for thalassemia. This approach involves modifying the patient’s own stem cells to correct the genetic mutations that cause thalassemia. The modified stem cells are then transplanted back into the patient to produce healthy red blood cells. Although still in experimental stages, gene therapy has shown promising results in clinical trials and could potentially offer a long-term solution to thalassemia in the future.
Medications for Thalassemia:
- Folic Acid
- Purpose: Supports red blood cell production
- Use: Commonly prescribed for all thalassemia patients, especially those not receiving regular transfusions.
- Iron Chelators
- Purpose: Remove excess iron due to frequent blood transfusions
- Types:
- Deferoxamine (Desferal) – Injectable
- Deferasirox (Exjade, Jadenu) – Oral
- Deferiprone (Ferriprox) – Oral, used when others are not effective
- Purpose: Increases fetal hemoglobin (HbF) production
- Use: Helps reduce transfusion need in beta-thalassemia intermedia
- Luspatercept (Newer agent)
- Purpose: Enhances red blood cell production
- Use: Approved for transfusion-dependent beta-thalassemia
- Erythropoietin (EPO)
- Purpose: Stimulates red blood cell formation
- Use: Sometimes used in non-transfusion-dependent cases
Natural Remedies and Supportive Therapies:
While traditional medical treatments form the backbone of thalassemia management, there are also natural remedies and lifestyle adjustments that can help support the body and improve quality of life. It’s essential to note that these should complement, not replace, standard medical treatments.
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- Dietary Modifications:
- Iron-Free Diet: Since individuals with thalassemia often face iron overload due to frequent blood transfusions, it’s important to avoid foods high in iron, such as red meat, liver, and iron-fortified cereals. However, they still need to consume nutrient-dense foods rich in vitamins and minerals to support overall health.
- Antioxidant-Rich Foods: Fruits like berries, citrus fruits, and green leafy vegetables are packed with antioxidants, which can help combat oxidative stress caused by iron overload and support overall immune function.
- Vitamin C: While vitamin C helps with iron absorption, it should be consumed in moderation and under medical supervision, especially in thalassemia patients who may be at risk for excessive iron absorption.
- Omega-3 Fatty Acids: Found in fish oil and flaxseeds, omega-3 fatty acids can help reduce inflammation and support heart health, particularly important in patients at risk of cardiac complications from iron overload.
- Herbal Remedies:
Some herbs may have a positive effect on the body’s iron balance and general well-being, but it’s important to use them under a doctor’s guidance:- Turmeric: With its active compound curcumin, turmeric has anti-inflammatory and antioxidant properties that could help reduce the inflammatory burden associated with thalassemia.
- Milk Thistle: Known for its liver-protective qualities, milk thistle may help support the liver, which can be vulnerable to iron overload.
- Acupuncture and Stress Management:
Thalassemia patients often face psychological stress due to the chronic nature of the disease. Complementary therapies like acupuncture, meditation, and yoga can help alleviate stress and improve emotional well-being. These therapies have been shown to have positive effects on the immune system and overall quality of life.
CONCLUSION:
Thalassemia, a genetically inherited blood disorder, poses significant health challenges due to impaired hemoglobin production, resulting in chronic anemia and a need for lifelong care. Accurate diagnosis through clinical evaluation, blood tests, and genetic analysis is essential for early intervention. Management strategies primarily revolve around regular blood transfusions, iron chelation therapy, and in severe cases, bone marrow transplantation or gene therapy. Supportive medications like folic acid, iron chelators, hydroxyurea, and newer agents such as Luspatercept have greatly improved the outcomes and quality of life for patients. Complementary approaches—including nutritional care, natural antioxidants, and stress management—further aid in maintaining general health.
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With ongoing research and advancements in treatment, including the promising role of biologics and gene editing, there is hope for improved, more personalized care in the future. A multidisciplinary approach, patient education, and access to comprehensive care remain crucial in effectively managing thalassemia and empowering patients to lead healthier, fuller lives.
If you need further information, you can contact Dr. Asif Iqbal – just drop your question in the comment section.
