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Project Thalassemia

What is Thalassemia?

Thalassemia is a type of inherited blood disorder that affects the production of hemoglobin and red blood cells. Patients have fewer red blood cells and hemoglobin than normal in their bodies. These red blood cells are often too small to function properly. In this disorder, red blood cells are destroyed excessively, thus causing anemia. Thalassemia patients can suffer from a variety of health complications.

Hemoglobin carries oxygen in our red blood cells. Hemoglobin is a protein that carries oxygen into our bodies from our lungs through the bloodstream. Hemoglobin is made from iron that our bodies take from food and a liquid substance called bone marrow.

The body’s shortage of oxygen causes anemia and fatigue when people with Thalassemia have inadequate bone marrow production of healthy hemoglobin and red blood cells. Thalassemia can damage organs, restrict growth, cause heart failure, and liver damage, and even result in death in more severe cases.

Symptoms of Thalassemia

Thalassemia has several types. Depending on the type and severity of your disease, you will experience different signs and symptoms. The following signs and symptoms are mentioned below:

  • Fatigue
  • Weakness
  • Slow growth
  • Dark urine
  • Abdominal swelling
  • Facial bone deformities
  • Pale or yellowish skin

Thalassemia is a condition in which some babies develop symptoms at birth while others experience them during their first two years of life. Some people do not have symptoms of thalassemia when only one hemoglobin gene is affected.

Causes of Thalassemia

Thalassemia is a condition in which there are mutations in the DNA responsible for making hemoglobin – the substance that carries oxygen throughout the body. The mutation is passed from the parents to the children when they have thalassemia. Hemoglobin molecules consist of two chains named alpha and beta. 

They can be affected by mutations. A person with thalassemia suffers from either a reduction in beta-globin production or a reduction in alpha-globin production. Depending on how many gene mutations your parents inherited from them, your thalassemia will be severe or mild. When your genes become mutated, thalassemia becomes more severe. As the amount of hemoglobin molecule affected varies, beta-thalassemia is characterized by varying severity.

Two forms of thalassemia are more severe.

Alpha thalassemia occurs when a gene for alpha-globin has been mutated or altered in some way. Beta-thalassemia is caused by mutations in the beta-globin gene.

Alpha Thalassemia

A patient with alpha thalassemia cannot produce enough alpha protein in their hemoglobin. The southern Chinese, Southeast Asian, Indian, Middle Eastern, and African populations are common.

The alpha-globin protein chain can be made by four genes located on two chromosomes. There are two genes per parent. This condition is caused by the absence of one of these genes. Thalassemia severity is determined by the number of faulty genes.

The symptoms are either absent or very mild if one gene is faulty (mutated). People who are seemingly healthy but have children with symptoms of thalassemia are known as Silent Carriers. Alpha thalassemia minima can also be referred to as two traits.

In patients with two mutated genes, mild anemia will occur.

Alpha thalassemia minor is also known as 1 trait.

Mutant hemoglobin H patients will suffer chronic anemia, or hemoglobin H disease. Hemoglobin H disease requires the need for regular blood transfusions throughout life.

A patient with alpha thalassemia major, the severe form of this thalassemia, has four mutant genes on his genome. Four mutated genes prevent a fetus from producing normal hemoglobin and make it impossible for it to survive. It is rare for transfusions of blood to be successful in fetuses. Thalassemia Bart hydrops fetalis is also known as this type of thalassemia.

Signs and Symptoms

Hemoglobin H is generally a healthy blood type for most children. Patients may experience mild to moderate anemia.

  • Fatigue
  • Drowsiness
  • Headaches
  • Pale skin
  • Chest pain
  • Dizziness and feeling faint
  • Cold hands and feet
  • Shortness of breath

If a child has hemoglobin H, he will not tend to become ill more often if he eats a healthy diet, is physically active, and is treated by a good physician. Symptoms may be more severe or last longer in some children than in others. Some children may need transfusions when they are sick.

Beta Thalassemia

The beta-globin chain is made from two globin genes. There is one globin gene per parent. Beta-thalassemia is caused when one or more of these genes is defective. There is also a link between severity and the number of genes mutated in beta-thalassemia.

A patient may suffer from Beta thalassemia minor if one globin gene is mutated. Anemia (Colley’s anemia) may be mild or severe depending on the mutated globin genes.

There are fewer cases of beta-thalassemia among Mediterranean people, which is why it is sometimes referred to as Mediterranean anemia. North Africa and West Asia are also more prone to having beta-thalassemia. The Maldives, an island chain in the Indian Ocean, has 16 per cent of its population as carriers.

Signs and Symptoms

Babies with beta-thalassemia do not display symptoms until their sixth month because they are born with fetal haemoglobin, which is very different from an adult’s blood. “Normal” haemoglobin replaces fetal hemoglobin after six months of age.

Thalassemia patients usually exhibit anaemia-like symptoms.

  • Jaundice
  • Fatigue
  • Pale skin
  • Cold hands and feet
  • Shortness of breath
  • Poor feeding
  • Delayed growth

Deformities of the skeleton can occur as the body produces more bone marrow. An excessive amount of iron will lead to the body absorbing more iron. Transfusions of blood can also lead to iron accumulation. Spleen, heart, and liver can be harmed by excessive iron Stronger resistance to infections Delayed puberty.

Diagnosis of Thalassemia

Symptoms of moderate to severe thalassemia usually appear in children between two and six years old. A blood test can confirm a diagnosis of thalassemia if your doctor suspects it in your child. Depending on the type and size of red blood cells, and their colour or shape, blood tests can uncover abnormalities. DNA can also be analyzed by blood tests to determine if genes have been altered.

Several blood tests may be ordered if a doctor suspects thalassemia:

This test measures hemoglobin levels, quantity and size of red blood cells. The red blood cells of patients with thalassemia may be particularly small, as well as have less hemoglobin than normal.

Count the number of red blood cells in your blood (reticulocytes) because this blood test measures how quickly the bone marrow produces them and releases them into the bloodstream. The reticulocytes develop into mature red blood cells after about two days in the bloodstream. Red blood cells made up of reticulocytes make up between 1% and 2% of the blood of a healthy person.

Thalassemia or iron deficiency can cause anemia. Iron studies can help the doctor determine which is the cause. It is not an iron deficiency that is responsible for thalassemia in people.

Genetic testing – A DNA analysis will help determine if someone has faulty hemoglobin genes or if thalassemia is the cause of their illness.

The test provides information about whether the fetus might have thalassemia during pregnancy and the severity of the condition. There are several types of tests available:

An isolated chorionic villus sample is taken from the placenta and analyzed in the lab. The procedure is usually done around the 11th week of pregnancy, at the end of the first trimester.

An amniotic fluid sample is obtained through amniocentesis. Most often, an amniocentesis takes place during the 16th week. There is a mostly clear, yellowish fluid surrounding the fetus called amniotic fluid.


Mild traits of thalassemia do not require treatment. Patients with moderate to severe forms may undergo the following treatments:

Regular blood transfusions

Through this process, red blood cells and levels of hemoglobin are replenished. A patient with moderate to severe thalassemia requires transfusions at least every four months. Transfusions may be required every two to four weeks for patients with more severe diseases. If a patient has mild symptoms or is infected, they may occasionally require transfusions.

Over time, transfusions can lead to an accumulation of iron in the blood, which can harm the heart, liver, and other organs.

Iron chelation

This procedure involves removing excess iron from the bloodstream through chelation.

Iron overload can occur after blood transfusions. Overloading the body with iron is detrimental to the heart, among other organs.

The medication may be administered subcutaneously (injected under the skin) or orally (taken by mouth). Those receiving blood transfusions and chelation may require folic acid supplements.

You may need to take supplements, such as deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox), to help your body shed the extra iron. A needle is used to administer a drug called deferoxamine (Desferal).

Chelation therapy

It aims to reduce the amount of iron in your blood. Having regular blood transfusions can increase iron levels in your blood. It is also possible for patients who do not receive transfusions to develop excessive levels of iron. It is crucial to remove excess iron from the body.

Bone marrow transplants

Bone marrow transplants, which are also known as stem cell transplants, involve the transplantation of spongy tissue found in the hollow centres of large bones. Hemoglobin, platelets, and blood cells are all produced by bone marrow cells. Getting bone marrow transplants (from a compatible donor) has been proved to be the best option. Unfortunately, it comes with certain risks.

Stem cell transplant

Bone marrow transplants may also be referred to as stem cell transplants. The procedure can eliminate lifelong blood transfusions and medications that regulate iron overload in individuals with severe thalassemia. A compatible donor is usually a sibling for this procedure, who is given stem cells.

In some cases of bone abnormalities, surgery may be required.


The most common complications include:

There is a risk of iron overload due to frequent transfusion or to the disease itself. The risk of hepatitis (swelling of the liver), fibrosis (enlargement of the liver), and cirrhosis (progressive scarring of the liver) are increased by iron overload. In the endocrine system, hormones are produced by glands. Due to the sensitivity of the pituitary gland to iron overload and its potential for damage, it may lead to a delay in puberty and limited growth. As the patient enters puberty, he or she is more likely to develop diabetes and/or have an underactive or hyperactive thyroid gland.

Industrialized countries have witnessed improvements in the quality and duration of life for patients with thalassemia. The possibility of heart attack and arrhythmias remains, as well as the possibility of chronic liver disease, which can lead to cirrhosis and hepatocellular carcinoma, as well as the possibility of diabetes, osteoporosis, thrombophilia, and pseudoxanthoma elasticum.

Patients who receive blood transfusions benefit from virus-screened transfusions, iron chelators, and modern imaging techniques. Measurement of iron deposits allows for improved iron overload management. Treatment is also available for a wide range of complications. Doctors with specialized expertise are necessary for treating thalassemia patients.


Can thalassemia lead to death?

There are mild and severe anemias associated with thalassemia. If the condition is not treated, organs will suffer permanent damage.

How long will someone with thalassemia live?

When carrying the thalassemia gene, it is possible to expect a normal lifespan. The average life expectancy of a person suffering from beta-thalassemia major is 17 years and 30 years. Cardiovascular complications related to iron overload are the most common cause of death.

What is the impact of thalassemia on your life?

It is common for people with thalassemia to feel fatigued due to its anemia. Minor cases do not normally require treatment. Transfusions of red blood cells might be required in severe cases. Exercise is one way to manage fatigue, while a nutritious diet is another.

What are the effects of thalassemia minor on periods?

Due to damage to the pituitary gland caused by iron buildup, teenagers with thalassemia may experience delayed or abnormal puberty. A condition known as amenorrhea occurs when menstrual bleeding is absent.

Is thalassemia associated with weight gain?

Within the first two years of life, thalassemia major begins to manifest its symptoms. Patients develop anemia that can lead to death. When a child does not thrive, their weight is low and they have a low growth rate. They may also experience jaundice (yellowing of the skin and whites of the eyes).

A thalassemia minor and a thalassemia minor can they marry?

Thalassemia Minors have to get their spouses/future spouses tested as well. During pregnancy, there is a 25% chance that the child of a couple with a thalassaemia minor will become a thalassaemia major.

What are the effects of thalassaemia on fertility?

Compared with patients treated with blood transfusion and chelation, thalassemia patients who have undergone allogeneic HSCT have a decreased fertility potential. Patients with thalassemia who are considering HSCT should be aware of this information.

What is the risk of heart disease associated with thalassemia?

Beta-thalassemia may cause problems like Fast heartbeat caused by anemia and iron overload. A serious form of arrhythmia is the irregular beat of the heart. An enlarged heart is caused by an insufficient amount of blood being pumped.
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