Thalassemia sometimes called “thal”. Thalassemia is a hereditary blood disorder caused by a defect in a gene in which the body produces an abnormal form of hemoglobin, which in turn causes anemia. Hemoglobin is the protein molecule in red blood cells that transports oxygen.
Red blood cells are important for the transport of oxygen throughout the body. The disorder causes the excessive destruction of red blood cells, resulting in anemia. Anemia is a condition in which your body does not have enough healthy, normal red blood cells.
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Thalassemia is hereditary, which means that at least one of your parents must have the disease. It is caused by a genetic mutation or the elimination of certain key gene fragments.
Thalassemia is sometimes confused with iron deficiency anemia until special blood tests are performed.
Thalassemia is a disease that can last a lifetime.
Types of Thalassemia
The type of thalassemia a person may have depends upon the number of defective genes they have inherited.
There are Mainly 2 types of Thalassemia
- Beta-thalassemia – Major and Minor Subtype.
- Alpha thalassemia – hemoglobin H and fetal hydrops subtypes.
In alpha thalassemia, a defective gene has little or no effect on a person. Two defective genes are associated with mild anemia.
Alpha thalassemia occurs when the body can not produce alpha globin. To make alpha globin, you must have four genes, two from each parent.
This type of thalassemia also has two serious types: hemoglobin H disease and fetal hydrops.
Three mutant genes produce hemoglobin H disease, which requires regular blood transfusions to treat chronic anemia. This disease can lead to bone problems. Cheeks, forehead and jaws can grow too much. In addition, the disease of hemoglobin H can cause:
- An Extremely Enlarged Spleen
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Hydrops fetalis is an extremely severe form of thalassemia that occurs before birth. Most people with this disease die or die shortly after birth. This condition develops when all four alpha globin genes are altered or absent. It is unlikely that unborn babies with four defective genes survive the pregnancy.
Beta thalassemia occurs when your body can not produce beta globin. Two genes, one from each parent, are inherited to produce beta-globin.
Beta-thalassemia also has several forms:
Beta-thalassemia major, also called BTM, requires regular blood transfusions for life. BTM is the most common form of the disease in the UK and the most serious.
Intermediate beta-thalassemia is also known as BTI or non-transfusion thalassemia or NTDT. It is a milder form of the disease and the severity will vary between people, from mild anemia to the need for regular blood transfusions.
The carrier of alpha or beta-thalassemic genes does not cause disease and the carriers do not know that they are carriers. Only special blood tests can confirm the condition of the wearer. The condition of the operator is important for people who want to have children as the genes are passed down from generation to generation.
People with a family history in the Mediterranean, the Middle East, Africa or Asia are more likely to be carriers. Thalassemia is common in these areas as it protects carriers against malaria.
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How common is thalassemia?
Thalassemia affects about 4 out of every 10,000 births worldwide.
- Beta-thalassemia is widespread in the Mediterranean, the Middle East, Central Asia, South and South Asia and Southern China.
- Alpha thalassemia is common in Southeast Asia, Africa and India.
Thalassemia is common in these areas as it protects carriers against malaria.
How is thalassemia inherited?
A child inherits hemoglobin genes from both parents. For example, if both parents are beta thalassemia, there is: one in four chances that the child has normal hemoglobin genes; a chance in two that the child has a beta thalassemia property; and a 1 in 4 option will have the child BTM or BTI.
What are the Causes of Thalassemia?
Thalassemia is caused by defective genes that affect the production of hemoglobin. Thalassemia cannot be transfered by another person, it is only inherited from genes and can be passed on from parent to child.
Protein hemoglobin transports oxygen around the body into the blood cells. Bone marrow uses the iron we get from food to produce hemoglobin.
In people with thalassemia, the bone marrow does not produce enough hemoglobin or healthy red blood cells. In some species, this leads to an oxygen deficiency that leads to anemia and fatigue.
The NHS estimates that there are about 1,000 people in the UK living with severe beta-thalassemia (BTM). Most of these cases affect people with a history in the Mediterranean, the Middle East and South Asia, including India, Pakistan and Bangladesh.
Pregnant women are being tested for inherited conditions such as thalassemia during routine prenatal screening with blood tests as part of the NHS screening program for sickle cell anemia and thalassemia.
The UK Thalassemia Society reports that, before a person who is a beta-thalassemic carrier decides to have children, they need to know if their partner is also a carrier. For example, if both parents have the defective gene responsible for beta-thalassemia major, there is a 25% chance that every child will be born with the disease.
Doctors can organize the tests. Based on the test results, a special piece of advice can be offered.
Who can get Thalassemia?
Anyone can carry a thalassemia gene. On average, 3 out of every 100 people in the world have a thalassemia gene (and therefore have a thalassemia trait).
The likelihood of having a thalassemia gene depends on the origin of your family. Thalassemia is more common in people whose origins are Mediterranean, Asian or African.
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Symptoms of Thalassemia
The symptoms of thalassemia vary depending on the type of thalassemia.
Most babies with beta-thalassemia and certain types of alpha thalassemia do not experience symptoms until 6 months of age. This is because newborns have a different type of hemoglobin called fetal hemoglobin.
After 6 months, “normal” hemoglobin begins to replace the fetal type and symptoms can begin to appear.
- Jaundice and pale skin
- Drowsiness and tiredness
- Chest pain
- Cold hands and feet
- Difficulty breathing
- Leg cramps
- Fast beats
- Poor diet
- Delayed growth
- Dizziness and fainting
- Increased susceptibility to infections
- Skeletal deformities can occur when the body tries to produce more bone marrow.
If there is too much iron, the body will try to absorb more iron to make up for it. Iron can also accumulate as a result of blood transfusions. Excess iron can damage the spleen, heart and liver.
Patients with hemoglobin H develop gallstones and spleen hypertrophy more frequently.
If left untreated, thalassemia complications can lead to organ failure.
Treatments for Thalassemia
The treatment depends on the type and severity of thalassemia.
The most common treatment for beta thalassemia major (BTM) is to receive blood transfusions every four to six weeks to complete the hemoglobin in the body. This treatment can increase the iron levels in the body too high, with risks for the heart, liver and hormone problems. Chelation can be done to reduce the iron content.
Treatment with medications to remove excess iron from the body that accumulates as a result of regular blood transfusions. Some people experience iron excess even without transfusions and need treatment for it. Iron Excess can damage the heart and other organs.
Patients who receive blood transfusions and chelation may also need folic acid supplements. These help the red blood cells to grow.
Bone marrow or stem cell transplantation:
Bone marrow cells produce red and white blood cells, hemoglobin and platelets. Transplantation from a compatible donor can be an effective treatment in severe cases.
This may be necessary to correct bone anomalies.
Scientists are studying genetic techniques for the treatment of thalassemia. Options include insertion of a normal beta-globin gene into the patient’s bone marrow or the use of drugs to reactivate the genes that produce fetal hemoglobin.
Problems related to Thalassemia
Problems of anemia and transfusions:
Untreated anemia can affect bone growth and bone development as the bone marrow develops to produce more blood cells. Anemia can also cause an enlarged spleen (the spleen is an abdominal organ that is part of the immune system). A large spleen can aggravate the anemia, so you may need to perform an operation to remove the spleen. If your spleen is removed, you will need daily additional vaccines and penicillin to protect against certain infections (pneumococcal infection and meningitis).
Problems related to Transfusions:
Transfusions can cause blood reactions. These are less likely if the blood is paired very carefully to be as close to your blood as possible. Infections such as hepatitis B and hepatitis C can be transmitted by transfusion. This is less likely in the UK and in countries where donor blood is being tested for infection. Vaccination against hepatitis B is also recommended.
Problems related iron overload:
Iron overload was a major problem for people with BTM before chelation therapy. Chelation has reduced the complications of iron overload, but they can still occur. Therefore, you must be checked regularly for iron levels and possible problem.
Iron overload can damage various organs of the body, for example the heart, the liver, the endocrine glands, the pancreas (which causes diabetes) and the bones. Therefore, you must perform regular blood tests and tests to check the function of these organs. For children, growth and development are monitored. If some organs are affected by iron overload, you may need more chelation treatments or other treatments. When the hormone glands are affected, alternative hormones can be taken.
Problems related to chelation:
Chelation treatments have several potential side effects. Side effects can include blood, liver, kidneys, vision, hearing and bone. If you have a chelation treatment, you will need regular blood and urine tests and controls to detect your child’s eyes, hearing and growth problems. If you develop chelation-like side effects, you may need to adjust the dose or you may need a different chelator.
People with BTM may be more prone to severe bacterial infections (for various reasons). Therefore, contact a doctor immediately if you feel ill or if you have symptoms of infection such as high fever.
Some types of infections (of germ species (bacteria) called Yersinia and Klebsiella) are more common than normal due to iron overload or chelation therapy.
Yersinia causes stomach pain, diarrhea and fever. Sometimes this can simulate appendicitis.
Klebsiella causes fever and serious illness. If you have these symptoms, get an ambulance.
Talk to doctors and nurses about your thalassemia and the treatment you are taking. Non-specialists should also seek advice from their thalassemia specialists if they do not feel well.
In BTM, bone problems may occur due to thalassemia itself or chelation therapy. In addition, “thinning” of bones (osteoporosis) may occur at a younger age than usual. Therefore, your growth (if you are a child) and bone health need to be checked. A good intake of vitamin D and calcium helps to prevent osteoporosis. Several medications can help treat osteoporosis. If your bones are severely affected, you may need specialized advice.
Is there any cure for Thalassemia?
One possible cure is stem cell transplantation. This means a bone marrow transplant or an umbilical cord blood transplant. These treatments take normal cells that produce blood from a donor and give them to the person with thalassemia. If the transplant is successful, these cells last a lifetime and produce normal hemoglobin, a cure for life. However, stem cell transplantation is not suitable for everyone. You need a suitable donor, and there are serious risks. The British guidelines recommend that all patients with BTM have the opportunity to speak with a specialist about stem cell transplantation.
Common Myths and facts about Thalassemia
There are many myths about thalassemia.
Myth: If parents are not ill, the children will not inherit the thalassemia.
Fact: Although couples with thalassemia may not have any symptoms, a child could transmit the defective genes.
Myth: If only one parent carries thalassemia, genetic inheritance cannot be transmitted.
Fact: The child can not inherit the disorder itself; They could still inherit the status of the operator who could affect their children and subsequent generations.
Myth: Regular blood tests can show that they are the carriers.
Fact: Only certain blood tests can detect the state of the wearer.
Myth: If a baby is a carrier, it will get sick later in life
Fact: If a baby is a carrier and doesn’t show any symptoms then they can never develop the disorder in later stage, but they can still transmit defective genes if they have children later.
Myth: I do not have to tell other relatives that I am a carrier
Fact: If you have the defective gene or the defective genes, there is a possibility that other “blood relatives” will do it too.
Myth: My son is just a carrier, so we do not need to talk about it
Fact: When the time comes, parents should be open about the status of the provider so that their children can make informed decisions when planning a family.
Myth: Only women need a screening
Fact: Both genders need to be evaluated because a combination of genes is inherited from a child.
Myth: Thalassemia can be trapped in an infected blood
Fact: Sickle cells and thalassemia are not infectious, they are only hereditary.
Myth: Thalassemia should be treated with iron supplements
Fact: Iron supplements can aggravate thalassemia and iron overload is a risk and hard to treat.
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