What is Thalassemia?

Thalassemia is an inherited blood disorder where the where the body makes abnormal or less hemoglobin. Hemoglobin is the protein molecule of the red blood cells that helps in  distributing oxygen throughout the body. The low levels of hemoglobin in the blood can cause anemia where the body fails to produce healthy and normal red blood cells.
When your body does not have enough of the healthy red blood cells, you may suffer from serious health issues, organ failure and may sometimes become fatal.

What causes Thalassemia?

Since Thalassemia is a genetic disease, it means that it passes on to the offspring when one of the parents is a carrier of the disease. It occurs when there is a genetic mutation or abnormality in one of the genes that produces hemoglobin. In other words, it is caused when certain key gene fragments get deleted when passing from the parent to the child.

An important fact to note here is that not everyone who carries the abnormal gene suffers from the disease. This is known as Thalassemia minor and this may not cause any symptoms or illness at all. However, if both the parents are carrying the disease, it is most likely that the child will inherit the genetic defect and will suffer from Thalassemia.
Thalassemia is commonly found in people from Africa, Asia, the Middle East and Mediterranean countries like Turkey, Greece and Italy.

Symptoms of Thalassemia

  • Anemia
  • Excessive tiredness and weakness
  • Delayed growth and development
  • Yellow and pale skin or eyes
  • Dark urine
  • Shortness of breath
  • Frequent infections
  • Enlarged organs
  • Poor appetite

Types of Thalassemia

There are two major types of Thalassemia

  • Alpha
  • Beta ( more common)

Beta Thalassemia

Beta Thalassemia is more common and can cause serious illnesses. Alpha-globin and Beta-globin are both an important source for the production of hemoglobin. When one or both of the genes that make beta-globin fail to work correctly or work only partly, it gives rise to Beta Thalassemia.

This can be further classified into two other types-

Beta Thalassemia minor/ Beta Thalassemia trait: When only one of the damaged genes is received by the offspring, it becomes a case of mild anemia and does not necessarily
require treatment. In this case, the child receives a normal gene from one parent and a Thalassemia gene from the other

When both the genes are damaged this indicates that the child has received Thalassemia gene from both the parents. This may cause moderate or severe anemia and is further classifies into two types.

  • Beta Thalassemia Major or Cooley’s Anemia- It is the most severe form of Beta Thalassemia and can be life threatening. It symptoms occur early in the life of an individual probably within the first few months after birth. The person needs to have regular blood transfusions throughout his/ her life.
  • Beta Thalassemia intermediate: This is a more moderate form of anemia and occurs due to alteration in both the beta globin genes. The person may or may not require any blood transfusions.

Alpha Thalassemia

This type of Thalassemia occurs when any one or four of the alpha-globin genes are missing or damaged. The treatment is done based on the severity of the disease.

If one gene is damaged or missing- The red blood cells will to smaller compared to the normal size but there will be no symptoms. Such people are called silent carriers and do not need any treatment. However, they a silent carrier can pass on the defective gene to his/ her child.

If two genes are damaged or missing- This becomes a case of Alpha Thalassemia minor or Alpha Thalassemia trait. It is a minor form of anemia that does not require any treatment.

If three genes are damaged or missing- If a person is missing three of the alpha-globin genes, he / she will suffer from mild to moderate anemia which is called as hemoglobin H disease. This can lead to bone diseases which widely affect the cheeks, jaw and forehead. If the case becomes severe, the person may require blood transfusions.

If four genes are damaged or missing- When all the four genes are missing or defective, it takes an extremely severe form of Thalassemia. The disease is known as Hydrops Fetalis or Alpha Thalassemia major and occurs before birth. In such conditions, the fetus will either be stillborn or die shortly after birth.

Thalassemia Diagnosis

Being an inherited disease, Thalassemia may not have any effects on a particular individual but there is a high chance that the person will transfer the disease to their child. To prevent this, both the partners can go for a blood test to check whether they are carrying the disease or if there are any chances to pass on the disease to their child.

Once the doctor/ lab technician takes in the blood sample, he/ she will test for anemia and abnormal hemoglobin. An abnormal red blood cell is a clear sign of Thalassemia. The doctor may advise on any of the tests:

  • Complete Blood Count
  • Blood test that measures the different types of hemoglobin so as to identify the type of Thalassemia (hemoglobin electrophoresis)
  • Gene test to check whether you are carrying the gene causing Thalassemia
  • Iron level test

Depending on the severity of the disease, the doctor will provide the necessary treatment.

Treatment for Thalassemia

The treatment for Thalassemia entirely depends on the type and severity of the disease. With new and advanced medical innovations, most Thalassemia patients are able to live a normal and disease free life. As explained earlier that people with mild anemia do not show any kind of symptoms and hence do not require any treatment.

If the condition becomes moderate to severe, it can be treated with regular blood transfusions, Thus, based on the severity and the type of the disease, the doctor may recommend any of the below treatments.

  • Routine Blood Transfusions
  • Bone Marrow / Stem Cell Transplant Surgery
  • Medications and supplements
  • Surgery for removal of the spleen or gallbladder

The effects of excess iron intake in Thalassemia

When a person has repeated blood transfusions, it is possible that the body may be getting an excess of iron. Too much of iron in the blood can lead to organ failure and become fatal. To limit the iron intake, the doctor recommends Chelation Therapy. This medication removes the excess iron from the body.

Other effects of Thalassemia

  • High risk of infection
  • Bone deformities, especially abnormal bone structure in the skull and face
  • Cardiovascular diseases
  • Liver disease
  • Damage of the endocrine system
  • Delayed puberty

Prevention and Care for Thalassemia

Since it is a genetic disease, it cannot be prevented however there are ways to manage the disease.

  • Avoid excess iron, your doctor will recommend the right amount of iron required for your body. Do not take any vitamins that contain iron unless advised by the doctor.
  • Have a healthy diet rich in minerals and low in fat. Always keep a check on your iron intake and limit iron-rich foods. Discuss with your dietician for any changes in your food.
  • Get all the necessary vaccinations that include hepatitis B, flu shots and pneumococcal vaccine.
  • Avoid infections by keeping a regular check on your health and avoiding contact with the sick.
  • If any member of the family has Thalassemia it is advisable to get a blood test done to check if you too have the disease.

Referral Links: z-guides/tc/thalassemia- topic-overview#2

Note (for foreign patients):

Besides South Asian countries (Afghanistan, Bangladesh, Bhutan, Maldives, Nepal, Pakistan, Sri Lanka), every year, India gets thousands of medical tourists from African countries- Nigeria, Kenya, Ethiopia, Sudan, Uganda, Ghana, Somalia,Gambia etc and Middle Eastern countries like Iraq, Iran, Saudi Arabia, Oman, UAE, Yemen etc. Hence, if you are a citizen of any of these countries, there is good likelihood that you will be meeting some fellow citizens or same language speakers in the major hospitals in India. Almost all the top hospitals have translators for people of these region. Our patient support team is also well placed to assist you.

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