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Thalassemia: About, Causes, Symptoms, Diagnosis, Treatment

24 September, 2020 Sneha Lokwani

Thalassemia is a genetic disorder of the blood. It is common in some children from birth. Symptoms of this disorder usually appear at an early age. Thalassemia is caused by a blockage in blood production in the body. There are two types of this disease, Minor Thalassemia, and Major Thalassemia.  Children with minor thalassemia lead a normal life. But children with major thalassemia need blood transfusions after 21 days or a month and due to other complications because of major thalassemia, most of the cases die before age of 30. Some people ignore the problem of the lack of blood in the body. But be careful and check-in time. Women and men with such thalassemia minors are more likely to have major thalassemia in their children after marriage.

Symptoms Of Thalassemia

Symptoms of thalassemia vary from person to person, depending on the type of thalassemia. Some babies show symptoms after the birth itself, while some develop the symptoms on the later stage of life and some might not have visible symptoms.

  • The most evident symptom is delayed in growth and development.
  • There will be facial bone deformities.
  • The person might experience extreme fatigue and tiredness all the time.
  • Their skin color will be yellow all pale.
  • Dark urine
  • Swelling in the abdomen

Other Complications Due To Thalassemia

  • Infection: There are high chances of people with thalassemia to get prone to any infection or disease easily. Especially in the case when they have had their spleen removed.
  • Enlarged Spleen: Thalassemia destroy a large number of red blood cells, which will lead to spleen enlargement because of the more pressure on the spleen, compared to normal. It has to be removed surgically if it has grown too big.
  • Iron overload: Due to the frequent blood transfusions or from some other disease, thalassemic people have too much iron in their bodies, which can lead to organ failures such as heart failures, liver failure, Damage of the endocrine system which will affect their hormones.
  • Bone deformities: Thalassemic patients have abnormal bone structures, especially the bones of their face and Skull because in this condition bone marrow gets expand which results in the widening of their bones.

Causes Of Thalassemia

This is an inherited abnormality in one of the genes which are involved in hemoglobin production.

The baby will suffer from Thalassemia minor if only one of his parents is a carrier of thalassemia and usually they don't have or might have some symptoms, but they will be the carrier and they may pass it to their future generation.

The baby will suffer from thalassemia major if both of his parents are thalassemia patients, that is both of his parents have minor thalassemia. Its symptoms are severe and they will need blood transfusions throughout their remaining life. This is why it is important to get a medical check-up before marriage as a precaution. So that future dangers are avoided.

Diagnosis of Thalassemia

The children with minor or major thalassemia show the symptoms in the first two years of their life itself and your doctor can confirm it by performing,

  • Blood tests for thalassemia, which will show the count of the red blood cells, abnormalities in their size, shape, and color. He may also ask to perform,
  • Hemoglobin electrophoresis test for thalassemia, which will help him to detect the type of the abnormality.

If either or both of the parents have thalassemia, prenatal testing is available for them to diagnose thalassemia in fetus.

  • Chorionic villus sampling: This is performed by removing a tiny piece of placenta and it is usually performed during the eleventh week of pregnancy.
  • Amniocentesis:  This is performed by detecting a sample a fluid that surrounds the fetus and it is usually performed during the 16th week of pregnancy.

Treatment For Thalassemia

Treatment depends on the type and severity of the thalassemia. There is no permanent cure for major thalassemia, they will need a blood transfusion for the rest of their life.

  • Chelation Therapy: This treatment is done to remove the excess iron from your blood, which may be deposited during the blood transfusion. Excess iron can damage your heart, liver, endocrine system and other organs but excess removal of iron is also not good for one's health. The doctor might prescribe the medications to remove excessive iron. Buy Medicines and Healthcare Products Online from 3MEDSone of the best online pharmacy companies in India. 
  • Blood transplant or stem cell transplant: This is performed in severe cases and infusions of stem cells can be donated only by compatible Donor, usually a sibling.

Red Blood Cell Production In Thalassemic Patient

Thalassemia is a blood disorder. In this, the production of red blood cells in the body of young children is not done properly. Your blood consists of white blood cells and red blood cells. White blood cells work to boost your body's immune system. Red blood cells work to maintain the level of hemoglobin in the body. But in patients with thalassemia, the formation of red blood cells is hampered. The speed at which these cells need to be formed is not the rate at which red blood cells are formed in the body. The lifespan of red blood cells in the body is about 120 days. But in thalassemia patients, these cells have a life span of only 20 days.


Many people don't know about this disorder, so it's necessary to spread awareness as it can lead to major diseases. It's important to maintain the blood level during this condition, the doctor might prescribe the medication to improve the blood level.