THALASSEMIA

There are two main types of thalassemia: alpha thalassemia and beta thalassemia. Here are common symptoms associated with both types:

• Fatigue: Individuals with thalassemia often experience fatigue and weakness due to the reduced oxygen-carrying capacity of their red blood cells.

• Anaemia: Thalassemia typically leads to anaemia, characterized by pale skin, shortness of breath, and a general feeling of tiredness.

• Jaundice: Excessive breakdown of red blood cells can result in jaundice, causing yellowing of the skin and eyes.

• Growth and Developmental Delays: Thalassemia can affect growth and development in children, leading to delayed puberty and growth retardation.

• Bone Deformities: Severe thalassemia can lead to bone deformities, particularly in the face and skull. This can cause the facial bones to protrude and may result in an abnormal appearance.

• Enlarged Spleen and Liver: Some individuals with thalassemia may have an enlarged spleen (splenomegaly) and liver (hepatomegaly) due to the increased workload on these organs.

• Dark Urine: The breakdown of red blood cells can result in dark urine.

• Poor Appetite: Children with thalassemia may experience a poor appetite, leading to weight loss.

• Abdominal Pain: Enlarged organs, such as the spleen and liver, can cause abdominal pain or discomfort.

• Yellow or Pale Skin: Anaemia and jaundice can lead to changes in skin colour.

• Swelling of Facial Bones (in severe cases): In cases of severe thalassemia, facial bones may become enlarged, leading to facial deformities.

Here are the main types of thalassemia: 

Alpha Thalassemia:

• Silent Carrier: In this type, one of the four alpha-globin genes is mutated, resulting in no apparent symptoms or only mild anaemia.

• Alpha Thalassemia Trait or Alpha Thalassemia Minor: Two out of the four alpha-globin genes are mutated. It usually causes mild anaemia and is often asymptomatic or mildly symptomatic.

• Haemoglobin H Disease: Three out of the four alpha-globin genes are mutated. This form can cause moderate to severe anaemia, and individuals may require occasional blood transfusions.

• Hydrops Fetalis: This is the most severe form of alpha thalassemia, where all four alpha-globin genes are mutated. It leads to severe anaemia before birth, and affected foetuses rarely survive.

Beta Thalassemia:

• Beta Thalassemia Minor or Beta Thalassemia Trait: One of the two beta-globin genes is mutated. Individuals with this form usually have mild anaemia or no symptoms.

• Beta Thalassemia Intermedia: Two mutated beta-globin genes, resulting in moderate anaemia. People with beta thalassemia intermedia may require occasional blood transfusions during periods of increased stress or illness.

• Beta Thalassemia Major or Cooley's Anaemia: Both beta-globin genes are mutated, leading to severe anaemia that requires regular and lifelong blood transfusions. Without appropriate treatment, beta thalassemia major can lead to significant complications and affect the quality of life.

Other Types:

• Epsilon Thalassemia: This type involves mutations in the gene that produces epsilon-globin chains. It can affect the production of foetal haemoglobin in new-borns.

• Delta Beta Thalassemia: In this type, mutations occur in both the delta and beta-globin genes.

Thalassemia is caused by genetic mutations in the genes responsible for producing haemoglobin, a protein found in red blood cells that is essential for carrying oxygen throughout the body. These genetic mutations can affect either the alpha-globin chains or the beta-globin chains of haemoglobin. There are different types of thalassemia, including alpha-thalassemia and beta-thalassemia, each caused by specific gene mutations:

• Alpha-Thalassemia: This form of thalassemia results from mutations in the alpha-globin genes, which are located on chromosome 16. There are four alpha-globin genes in total (two on each chromosome 16), and the severity of alpha-thalassemia depends on the number of affected alpha-globin genes. There are four common types of alpha-thalassemia, including alpha-thalassemia trait, HbH disease, and Haemoglobin Bart's hydrops fetalis.

• Beta-Thalassemia: Beta-thalassemia is caused by mutations in the beta-globin genes, which are located on chromosome 11. There are different mutations that can affect the beta-globin genes, leading to various forms of beta-thalassemia. These include beta-thalassemia major (Cooley's anaemia), beta-thalassemia intermedia, and beta-thalassemia minor (thalassemia trait).

Thalassemia is inherited in an autosomal recessive manner, which means that an individual must inherit two mutated copies of the responsible gene (one from each parent) to develop the condition. If an individual inherits one mutated gene and one normal gene, they may be a carrier of thalassemia, known as having thalassemia trait. Carriers typically do not display symptoms but can pass the mutated gene on to their offspring.

Treatment for thalassemia can vary based on the type and severity of the condition. Here are some common medical treatments used for different forms of thalassemia:

• Blood Transfusions: Individuals with severe thalassemia, such as beta-thalassemia major (Cooley's anaemia), often require regular blood transfusions to maintain their haemoglobin levels and alleviate anaemia-related symptoms. However, frequent transfusions can lead to iron overload in the body over time.

• Iron Chelation Therapy: Iron overload due to regular blood transfusions can be managed with iron chelation therapy. Iron chelators are medications that help remove excess iron from the body. Common iron chelators include deferoxamine, deferiprone, and deferasirox.

• Folic Acid Supplements: Folic acid (vitamin B9) supplements may be prescribed to help support the production of healthy red blood cells.

• Bone Marrow Transplantation: In some severe cases of thalassemia, a bone marrow transplant (also known as hematopoietic stem cell transplantation) may be considered as a potential cure. This procedure involves replacing the patient's diseased bone marrow with healthy donor marrow or stem cells. It is most commonly performed in young individuals with beta-thalassemia major who have suitable donors.

• Gene Therapy: Gene therapy is an emerging treatment option for thalassemia. It involves introducing functional copies of the affected haemoglobin gene into the patient's cells to restore normal haemoglobin production. Gene therapy is still under investigation and not widely available.

• Supportive Care: Patients with thalassemia may also receive supportive care to manage specific symptoms or complications associated with the condition. This may include treatments for bone health, managing iron overload-related organ damage, and addressing any other medical issues that may arise.

Complementary and natural approaches can be used alongside medical treatments for thalassemia to support overall health and well-being. Here are some natural treatment and lifestyle strategies that individuals with thalassemia may find helpful:

• Plant-Based Diet: Adopting a plant-based or vegetarian diet can be beneficial, as it typically contains lower levels of iron compared to diets rich in animal products. Reducing iron intake from food sources can help manage iron overload in the body.

• Limit Iron-Rich Foods: Be mindful of consuming iron-rich foods such as red meat, liver, and iron-fortified cereals. Avoiding excessive iron intake through diet can help prevent further iron buildup.

• Herbal Teas: Some herbal teas, such as ginger or chamomile tea, may help alleviate digestive discomfort or nausea, which can be associated with thalassemia or its treatment. 

• Psychological Support: Living with a chronic condition like thalassemia can be emotionally challenging. Consider seeking support from a therapist, counsellor, or support group to help cope with the emotional and psychological aspects of the condition.

• Hydration: Drinking plenty of water is essential for overall health and can help maintain adequate hydration, especially when undergoing treatments or dealing with complications associated with thalassemia.

• Regular Exercise: Engaging in regular physical activity, under the guidance of a healthcare provider, can help maintain muscle strength and overall well-being. Exercise can also support healthy bone density, which can be affected in some cases of thalassemia.

• Bone Health: Pay attention to bone health, as individuals with thalassemia may be at risk of bone complications. Ensure an adequate intake of calcium and vitamin D through diet or supplements.