Thalassemia : Know The Causes, Prevention And Treatment

A genetic blood illness called thalassemia makes your body produce less haemoglobin than is normal. Red blood cells may carry oxygen because haemoglobin is present. Anaemia brought on by thalassemia can make you feel exhausted.

If you have moderate thalassemia, you might not require treatment. Blood transfusions may be required often, nevertheless, for more severe disorders. By maintaining a healthy diet and engaging in regular exercise, you can combat tiredness.

Causes

The DNA of the cells that produce haemoglobin, the component of red blood cells that transports oxygen throughout the body, is mutated in thalassemia patients. Parents can pass on thalassemia-related mutations to their children.

Alpha and beta chains, which make up the molecules of haemoglobin, are subject to mutation. In thalassemia, either alpha- or beta-thalassemia results from a reduction in the production of the alpha or beta chains.

The number of gene mutations you inherit from your parents determines the level of thalassemia you have if you have alpha-thalassemia. Your thalassemia will be more severe if you have more gene mutations.

Depending on which component of the haemoglobin molecule is impacted in beta-thalassemia, the severity of the thalassemia you have varies.

Alpha-thalassemia

Four genes contribute to creating the chain of alpha haemoglobin. Your parents give you two each. Upon inheriting:

• You will not exhibit any thalassemia symptoms or indicators if one gene is altered. However, because you have the illness, you run the risk of passing it to your offspring.
• Your thalassemia signs and symptoms will be moderate because you have two mutated genes. We may refer to this situation as an alpha-thalassemia phenotype.
• Your indications and symptoms will range from mild to severe due to three faulty genes.
• Four mutant genes are extremely uncommon and often cause stillbirth. Babies with this syndrome frequently pass away shortly after delivery or need transfusion treatment for the rest of their lives. Rarely, transfusions and stem cell transplants can be used to treat a child born with this condition.

Beta-thalassemia

There are two genes that help to make the chain of beta haemoglobin. Your parents each give you one. Upon inheriting:

• You will have minor symptoms and indicators if one gene is altered. Thalassemia minor, also known as beta-thalassemia, is this disorder.
• Due to two defective genes, your signs and symptoms will range from minor to severe. 
• Thalassemia major, often known as Cooley anaemia, is the name of this illness.
• The majority of newborns with two faulty beta haemoglobin genes are normal at birth, but within the first two years of life, signs and symptoms start to appear. Two faulty genes can also cause thalassemia intermedia which is a lesser type.

How to check if you have Thalassemia?

If your child exhibits any thalassemia signs or symptoms, schedule a visit with the doctor for a diagnosis.

Risk Factors

You are more likely to get thalassemia if you have:

Thalassemia in the family. The thalassemia gene is mutated in thalassemia, which is passed from parents to their children.

A specific ancestry. African Americans and those of Mediterranean and Southeast Asian ancestry are more likely to get thalassemia.

Symptoms

Thalassemia comes in various forms. The kind and severity of your ailment will affect the signs and symptoms you experience.

Signs and symptoms of thalassemia include:

• Fatigue
• Weakness
• Deformities of the facial bones
• Pale or yellow skin
• Modest growth
• Stomach bloating
• Dark faeces

Some newborns display thalassemia symptoms upon birth, while others do so over the course of the first two years of life. Some patients with only one haemoglobin gene affected do not experience the symptoms of thalassemia.

Prevention

Thalassemia is unpreventable. If you wish to have children but have thalassemia or have the thalassemia gene, you might consider speaking with a genetic counsellor for advice.

An early-stage embryo is checked for genetic mutations using assisted reproductive technologies in conjunction with in vitro fertilisation. This might aid in the delivery of healthy offspring for parents who have thalassemia or are haemoglobin gene carriers.

The method entails taking mature eggs from the ovaries and fertilising them in a dish in a lab with sperm. Only those embryos that have no genetic flaws are implanted into the uterus after being tested for them.

Treatments

Treatment for mild cases of thalassemia trait is not necessary.

Treatment options for mild to severe thalassemia include:

Frequent transfusions of blood. Blood transfusions are frequently necessary for more severe cases of thalassemia, potentially every several weeks. Iron builds up in your blood as a result of blood transfusions over time, which can harm your heart, liver, and other organs.

Treatment for chelation. This is a procedure to get rid of extra iron in your blood. Regular transfusions might cause an accumulation of iron. Excess iron can also develop in some thalassemia patients who do not receive frequent transfusions. For the sake of your health, extra iron must be eliminated.

You might need to take an oral medicine like deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox) to assist your body get rid of the excess iron. Another

Deferoxamine (Desferal), a drug, is administered via needle.

Transplant of stem cells. A stem cell transplant, often known as a bone marrow transplant, can be a possibility in some circumstances. It can reduce the need for lifetime blood transfusions and medications to manage iron excess in kids with severe thalassemia.

Receiving stem cell infusions from a suitable donor—typically a sibling—is what this technique entails.

You might be able to keep your thalassemia under control by sticking to your treatment plan and making healthy lifestyle decisions.

Limit your iron intake. Do not take iron-containing vitamins or supplements unless your doctor advises you to.

Adopt a balanced diet. You might feel better and have more energy by eating well. To assist your body in producing new red blood cells, your doctor may also advise taking folic acid supplements.

Make sure your diet has enough calcium and vitamin D to maintain the health of your bones. Consult your doctor to determine the proper dosages for you as well as whether you require a supplement.

Consult your doctor before taking any additional supplements, such as folic acid. This vitamin B aids in the production of red blood cells.

Avoid becoming sick. Regular hand washing and keeping away from ill people. This is particularly crucial if your spleen was removed.

Additionally, you will require yearly flu shots as well as vaccinations against meningitis, pneumonia, and hepatitis B. Consult your doctor for treatment if you experience a fever or other signs and symptoms of an infection.

Complications of Thalassemia

The following issues might arise from mild to severe thalassemia:

Excessive iron. Both thalassemia and getting many blood transfusions can result in an excess of iron in the body. Too much iron can be harmful to your heart, liver, and endocrine system, which houses the hormone-producing glands that regulate biological activities.

Infection. Infection risk is higher in thalassemia patients. This is particularly valid if your spleen was removed.

These issues may arise in people with severe thalassemia:

Bone anomalies. Your bone marrow may enlarge as a result of thalassemia, which will broaden your bones. Due to this, your face and skull in particular may have an abnormal bone structure. Additionally, bone marrow expansion thins and weakens bones, increasing the risk of fracture.

Expanded spleen. Your body uses the spleen to filter unwanted substances like stale or damaged blood cells and fight infection. Red blood cell apoptosis is frequently a complication of thalassemia. Your spleen grows and has to work more than usual as a result.

An enlarged spleen can shorten the lifespan of transfused red blood cells and exacerbate anaemia. If your spleen becomes too large, your doctor may advise having it surgically removed.

Decreasing growth rates. Both a child's growth and puberty might be delayed by anaemia.

Heart issues. Severe thalassemia may be accompanied by congestive heart failure and irregular cardiac rhythms.

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