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Thalassemia is an inherited blood condition in which your body produces less hemoglobin than usual. Hemoglobin allows red blood cells to transport oxygen. Thalassemia can result in anemia, which causes weariness.
You may not need therapy if you have mild thalassemia. However, more severe cases may necessitate regular blood transfusions. You can deal with weariness by eating a balanced diet and exercising on a regular basis.
WHAT ARE THE SYMPTOMS OF THALASSEMIA?
Thalassemia is classified into different categories. The indications and symptoms you experience are determined by the kind and severity of your ailment.
Thalassemia symptoms and indicators might include:
- Fatigue
- Weakness
- Facial bone deformities
- Slow growth
- Skin that is pale or yellowish
- Swelling in the abdomen
- Urine that is dark
Some babies have thalassemia symptoms before birth, while others develop them during the first two years of life. Some persons with thalassemia do not have symptoms because they just have one defective hemoglobin gene.
WHAT ARE THE CAUSES OF THALASSEMIA?
Thalassemia is caused by DNA abnormalities in cells that produce hemoglobin, the material in red blood cells that transports oxygen throughout the body. The mutations that cause thalassemia are handed down from parents to offspring.
Hemoglobin molecules are made up of alpha and beta chains, which can be altered by mutations. The production of either the alpha or beta chains is diminished in thalassemia, resulting in either alpha-thalassemia or beta-thalassemia.
The severity of thalassemia in alpha-thalassemia is determined by the number of gene mutations inherited from your parents. The more mutated genes you have, the worse your thalassemia will be.
The severity of beta-thalassemia is determined by which section of the hemoglobin molecule is damaged.
Alpha-thalassemia
The alpha hemoglobin chain is produced by four genes. Your parents each give you two. If you receive an inheritance:
- With just one faulty gene, you will have no indications or symptoms of thalassemia. However, you are a carrier of the disease and can infect your offspring.
- Because of two faulty genes, your thalassemia signs and symptoms will be minimal. This disorder could be referred to as alpha-thalassemia trait.
- Because of three faulty genes, your indications and symptoms will range from mild to severe.
It is uncommon to inherit four mutated genes, which typically results in stillbirth. Babies born with this syndrome frequently die shortly after birth or require transfusion therapy for the rest of their lives. A kid born with this disease can be treated with transfusions and a stem cell transplant in rare situations.
Beta-thalassemia
The beta hemoglobin chain is produced by two genes. Each of your parents gives you one. If you receive an inheritance:
- With just one faulty gene, you'll have only minor signs and symptoms. This is known as thalassemia minor or beta-thalassemia.
- With two mutated genes, your indications and symptoms will range from mild to severe. This is known as thalassemia major, often known as Cooley anemia.
Babies born with two faulty beta hemoglobin genes are normally healthy at birth, but develop symptoms within the first two years of life. Two faulty genes can also cause thalassemia intermedia, a lesser type.
WHAT ARE THE RISK FACTORS FOR THALASSEMIA?
The following factors enhance your chance of thalassemia:
- There is a history of thalassemia in the family: Thalassemia is handed on from parents to children via faulty hemoglobin genes.
- Ancestry: Thalassemia is most common in African Americans, as well as those of Mediterranean and Southeast Asian ancestry.
WHAT ARE THE COMPLICATIONS OF THALASSEMIA?
The following are possible complications of moderate to severe thalassemia:
- Iron overload: People with thalassemia may have an excess of iron in their systems due to the disease or repeated blood transfusions. Too much iron can harm your heart, liver, and endocrine system, which includes hormone-producing glands that govern bodily processes.
- Infection: People with thalassemia are more susceptible to infection. This is especially true if your spleen has been removed.
The following complications can occur in cases of severe thalassemia:
- Bone deformities: Thalassemia can cause bone marrow to swell, causing your bones to broaden. This can lead to aberrant bone structure, particularly in the face and skull. Bone marrow enlargement also thins and brittleens bones, increasing the likelihood of fracture.
- Enlarged spleen: The spleen aids your body in fighting infection and filtering out undesirable material such as old or broken blood cells. Thalassemia is frequently accompanied with a substantial number of red blood cells being destroyed. Your spleen enlarges and works harder than usual as a result of this.
An enlarged spleen can exacerbate anemia and shorten the survival of transfused red blood cells. If your spleen becomes too large, your doctor may recommend surgery to remove it.
- Slowed growth rates: Anemia can both decrease a child's growth and cause puberty to be delayed.
- Heart issues: Severe thalassemia can cause congestive heart failure and irregular cardiac rhythms.
HOW IS THALASSEMIA DIAGNOSED?
The majority of children with moderate to severe thalassemia develop symptoms within the first two years of life. If your doctor suspects your child has thalassemia, blood testing can confirm the diagnosis.
Blood tests can identify the quantity of red blood cells in the body as well as any abnormalities in size, shape, or color. Blood testing can also be used to analyze DNA for altered genes.
Prenatal testing
Testing can be done before a baby is born to identify if he or she has thalassemia and how serious it is. The following tests are used to diagnose thalassemia in fetuses:
Chorionic villus sampling: This test, usually performed around the 11th week of pregnancy, involves extracting a little piece of the placenta for assessment.
Amniocentesis: This test, which is usually performed during the 16th week of pregnancy, involves evaluating a sample of the fluid that surrounds the fetus.
WHAT ARE THE TREATMENTS FOR THALASSEMIA?
Mild cases of thalassemia trait do not require treatment.
Treatments for mild to severe thalassemia may include:
- Regular blood transfusions: More severe cases of thalassemia frequently necessitate blood transfusions, sometimes every few weeks. Blood transfusions generate an iron buildup in your blood over time, which can harm your heart, liver, and other organs.
- Chelation therapy: This is a therapy for excess iron in the blood. Regular transfusions can cause iron buildup. Some thalassemia patients who do not receive frequent transfusions may develop excess iron. It is critical for your health to remove extra iron.
To assist your body get rid of the excess iron, you may need to take an oral drug such deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox). Another medication, deferoxamine (Desferal), is administered through needle.
- Stem cell transplant: A stem cell transplant, often known as a bone marrow transplant, may be an option in some circumstances. It can eliminate the requirement for lifelong blood transfusions and iron overload medicines in children with severe thalassemia.
This treatment entails receiving stem cell infusions from a suitable donor, usually a sibling.
HOME REMEDIES FOR THALASSEMIA
Following your treatment plan and maintaining healthy lifestyle choices can help you manage your thalassemia.
- Avoid consuming too much iron: Do not take iron-containing vitamins or supplements unless your doctor advises you to.
- Maintain a healthy diet: Eating healthy can make you feel better and give you more energy. Your doctor may also advise you to take a folic acid supplement to help your body produce new red blood cells.
Make sure your diet contains adequate calcium and vitamin D to maintain your bones healthy. Consult your doctor to determine the appropriate doses for you and whether you require a supplement.
Consult your doctor about taking additional vitamins, such as folic acid. It is a B vitamin that aids in the formation of red blood cells.
- Avoid getting infected: Avoid sick people and wash your hands frequently. This is especially crucial if your spleen has been removed.
You'll also need a flu shot every year, as well as immunizations to protect against meningitis, pneumonia, and hepatitis B. Consult your doctor if you develop a fever or other signs and symptoms of an infection.
HOW CAN THALASSEMIA BE REVENTED?
In most circumstances, thalassemia cannot be avoided. If you have thalassemia or possess a thalassemia gene, you should consult a genetic counselor for advice if you wish to have children.
There is a type of assisted reproductive technology diagnosis that uses in vitro fertilization to check an embryo for genetic abnormalities in its early stages. This could assist parents with thalassemia or carriers of a faulty hemoglobin gene produce healthy offspring.
The method entails collecting mature eggs and fertilizing them with sperm in a laboratory dish. Only embryos with no genetic flaws are placed into the uterus after being checked for defective genes.