Thalassemia

Overview of Thalassemia

Thalassemia (تھیلیسیمیا)is a genetic blood disorder in which the person tends to suffer from low levels of hemoglobin in the blood than normal. Hemoglobin is needed in the body for the proper transfer of oxygen. Thalassemia can lead to anemia which often causes a person tiredness.

Mild thalassemia does not require any treatment. But severe forms of thalassemia do require frequent blood transfusions.

Thalassemia Meaning in Urdu

تھیلیسمیا زیادہ تر بچوں کو متاثر کرتی ہے۔ یہ ایک خون کی بیماری ہے جس کی وجہ سے جسم میں ہیمو گلوبن کا لیول کم ہو جاتا ہے۔ ہیمو گلوبن کی وجہ سے جسم میں آکسیجن کی سپلائی متاثر نہیں ہوتی، تاہم اگر ہیمو گلوبن کا لیول کم ہو جائے تو جسم کے مختلف حصوں میں آکسیجن کی سپلائی متاثر ہوتی ہے۔ تھیلیسیمیا کی وجہ سے جسم میں خون کی کمی بھی واقع ہو سکتی ہے، جب کہ اس بیماری کا شکار افراد ہر وقت تھکاوٹ محسوس کرتے ہیں۔ تھیلیسیمیا اگر شدت اختیار نہ کرے تو قدرتی غذاؤں سے اسے ختم کیا جاتا ہے۔

Signs and Symptoms of Thalassemia

There are various types of thalassemia. The signs and symptoms of thalassemia depend upon the severity of the conditions. Some major thalassemia symptoms are as follows:

  • Slow growth and development
  • Weakness
  • Fatigue
  • Pale or yellow color
  • Abdominal swelling
  • Facial bone deformities
  • Dark-colored urine

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Causes of Thalassemia

Thalassemia is a blood disorder that is caused by mutated DNA in the cells that make thalassemia. These mutated genes are then transferred from parents to children.

The molecules of hemoglobin are made up of alpha and beta chains. This disease is caused either in the alpha or the beta chain leading to alpha-thalassemia or beta-thalassemia.

Alpha-Thalassemia

There are four major genes involved in the development of the alpha hemoglobin chain. A child inherits two from each parent.

One Mutated Gene

You do not have any signs of thalassemia. But you are a carrier of this disease and can also transfer it to the children.

Two Mutated Gene

The thalassemia symptoms are mild. This condition is also known as the alpha-thalassemia trait.

Three Mutated Gene

The signs and symptoms of this thalassemia range from moderate to severe.

Beta-Thalassemia

Two genes are normally involved in making the beta hemoglobin chain. If you inherit

One Mutated Gene

A person who inherits one mutated gene might suffer from mild signs and symptoms. This condition is also known as beta-thalassemia.

Two Mutated Gene

In this condition, a person suffers from moderate to severe symptoms. This type of thalassemia is known as thalassemia major.

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Risk Factors of Thalassemia

The risk factors of thalassemia are as follows:

A Family History

Thalassemia is a genetic disease that is passed from parents to children.

Ethnicity

African Americans and people of the Mediterranean region have a higher chance of thalassemia.

Complications of Thalassemia

Thalassemia can lead to the following complications such as:

Iron overload

People who have thalassemia can suffer from an iron overload. This can be because of the disease or the frequent

Infection

People who have thalassemia have an increased risk of infection.

Bone deformities

Thalassemia is a condition that causes the expansion of the bone marrow. This can then lead to abnormal bone structure. The bones can become brittle. This can increase the chances of broken bones.

Enlarged Spleen

The spleen helps the body fight against infections. It also filters all the unwanted materials such as old and damaged blood cells. This can lead to spleen enlargement.

Slowed Growth Rates

Thalassemia often leads to anemia which can then cause stunted growth and delayed puberty.

Cardiac Issues

Severe cases of thalassemia can cause heart failure and abnormal heart rhythms.

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Prevention

Thalassemia is not a preventable disease. If a person has thalassemia it is important to consult with a genetic counselor for guidance regarding the purpose of having children.

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Diagnosis

Children who suffer from moderate to severe thalassemia can show the signs in the first two years of their life. The diagnosis can be confirmed with several blood tests.

Blood tests are used for the measurement of the number of red blood cells and abnormalities in size, shape, and color.

Prenatal Testing

Prenatal testing is done before a baby is born to assess if the baby has thalassemia or not. It can also give an insight into the severity of the disease spread. Given below are the tests that are used for prenatal testing:

Chronic Villus Sampling

This test is done at the 11th week of pregnancy. A small piece of placenta is removed for this test.

Amniocentesis

Amniocentesis is a test that is performed at the 16th week of pregnancy. In this test, a sample of the fluid is present around the fetus.

Treatment of Thalassemia | When to Consult a Doctor

Given below are the treatments for moderate to severe thalassemia:

Frequent Blood Transfusions

This is a commonly used method for thalassemia treatment. But frequent blood transfusions can lead to severe iron buildup in various body organs such as the heart, liver, and spleen.

Chelation Therapy

The treatment is used to reduce the excess iron from the body. Your doctor might prescribe you an oral medication such as

  • Deferasirox
  • Deferiprone

Stem Cell Transplant

This method is also known as bone marrow transplant. A stem cell transplant is a favored treatment method because it can eliminate the need for frequent blood transfusions afterward. The bone marrow of a compatible donor such as a family member is usually preferred.

Lifestyle Changes

Some lifestyle changes can also help in the treatment of thalassemia:

  • Consume a healthy and balanced diet
  • Do not take vitamins that are rich in iron
  • Pay attention to your personal hygiene

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