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Thalassemia Major: Signs, Symptoms, Causes, Treatment, Complications, Diagnosis, Nutritional Support

About Thalassemia Major:

Thalassemia is a genetically transmitted blood disorder characterized by a reduction in hemoglobin causing anemia. In this article, we discuss the signs and symptoms of thalassemia major, its causes, complications, and treatment.

Hemoglobin is a protein present in red blood cells of blood tissue. It helps to transport oxygen to different parts of the body with the help of iron present in it. If the oxygen supply is reduced due to insufficiency of hemoglobin in the blood, the cells are starved of oxygen. This condition of absence of the required amount of hemoglobin in the blood is referred to as anemia. This can affect the normal functioning of the organs.

Thalassemia is actually a group of complex diseases mainly characterized by severe anemia. It is classified in different ways and the main types are Alpha thalassemia and Beta-thalassemia. Thalassemia major is a type of Beta-thalassemia and is one of the serious variants. Thalassemia major, also known as Cooley’s anemia can present with a life-threatening condition. It is also called by other names such as microcytic beta type, erythroblastic anemia, Mediterranean anemia, etc.

Thalassemia Major: Signs, Symptoms, Causes, Treatment

What are the Signs and Symptoms of Thalassemia Major?

It is necessary to know the signs and symptoms of Thalassemia Major to be able to plan proper treatment and management. The child expresses the symptoms of Beta thalassemia major before completion of 2 years of age. Anemia in these patients is so severe that there would not be a normal growth rate and the children fail to gain weight as expected.1

Some of the major signs and symptoms of Thalassemia Major include the following:

  • Symptoms of jaundice appear. The skin and white portion of eyes become yellow.
  • Organs like heart, liver and spleen enlarge in size.
  • Puberty would be postponed in some children.
  • Severe anemia indicating blood transfusion frequently.
  • Overload of iron due to chronic blood transfusion. This may further lead to problems in the heart and liver.
  • Fatigue is present and most related to poor appetite.
  • Dark urine is also an important indication.

Causes of Thalassemia Major

To understand the causes of Thalassemia Major, it is important to know the genetic relation of this condition. Thalassemia Major is a genetically transmitted disease, which is carried from parents to offspring. In this disease, there is an insufficient amount of hemoglobin, which fails to produce red blood cells. This leads to the abundance of immature red blood cells and a few matured ones, which results in anemia.

Beta thalassemia major is an autosomal recessive disorder. This disease is expressed in individuals if they have both the defective gene. The condition is not expressed if one copy of the mutated gene is present. Hence it is understood that if a child suffers from Beta thalassemia major, both the parents might have a single copy of the defective gene. The parents do not show any symptoms and they are just carriers of this disease. This inheritance pattern is the cause of Thalassemia Major.

Only a few cases are recorded where autosomal dominant inheritance of the defective gene is seen. Here only one copy of the mutated gene is capable of causing the condition.

Diagnosis of Thalassemia Major

Diagnosis of Thalassemia Major is done based on some laboratory tests.

  • A complete blood count reveals the size and shape of red blood cells. In the case of thalassemia major, the red blood cells are very small and the shape also would be abnormal.
  • DNA testing tells about the kind of mutation.
  • Electrophoresis is performed to know about the abnormality of hemoglobin if any.

What are the Complications of Thalassemia Major?

In case of other forms of thalassemia such as mild and minor conditions, the patients can lead a normal life with a little care and treatment. A severe form of thalassemia such as beta type, death can occur in early adulthood and the most possible cause of death is heart failure.

One of the major complications of Thalassemia Major is the deposition of iron in large quantities than it should be in tissues over a period of time. This is because of blood transfusions on a regular basis. Beta thalassemia major if untreated can lead to problems with the liver.

What is the Treatment of Thalassemia Major?

In the case of small children, Thalassemia Major disease can be cured by a treatment called bone marrow transplantation. In adults usually, the treatment of Thalassemia Major often involves regular blood transfusion. Folate supplements are also given. Blood transfusion can cause the over deposition of iron in the body. Hence iron supplements should never be taken by such patients and it is important to follow medical advice. Usually, chelation therapy is done to eliminate the iron present in more quantity than necessary. Counseling to manage the condition can also be the main objective coming under treatment.

Nutritional Support to Manage Thalassemia Major

The patients suffering from Thalassemia Major usually suffer from nutritional deficiencies. The deficiencies can be assessed by doing some laboratory tests such as Vitamin D (25-hydroxy), FBS (fasting blood sugar), albumin, selenium, serum folate, serum copper, plasma zinc, alpha and gamma-tocopherol, ascorbate and ceruloplasmin. All these tests can be performed on an annual basis.

Nutritional supplements may be prescribed by physicians depending on the results of lab tests, the severity of the disease and also the age of the patients. These play an important role in the treatment of Thalassemia Major.

In the case of thalassemia patients who are not undergoing blood transfusion, regular folate supplement, low iron diet, excluding heme iron-rich foods (like red meat, beef, lamb, etc.) is recommended. Intake of black tea along with meals helps to check the absorption of iron from food.

From the lab test, if deficiency of Vitamin D (particularly 25 hydroxy) is detected, a supplement for the same is prescribed. Vitamin D supplement is of 50000 IU is given one per week is the level goes below 20 ng/dl.

Low iron diet is not advised for the patients who take chelation therapy as it further brings down the iron in the body.


Beta thalassemia major is a very serious form of the anemic condition in which, the patients have very less life span. Knowing the signs and symptoms of Thalassemia Major helps to seek timely medical advice. The complications of Thalassemia Major are severe, hence proper treatment is necessary. The treatment of Thalassemia Major help to manage the disease but the permanent cure cannot be expected. Hence, nutritional support and treatments (like blood transfusion and chelation treatment) are to be followed together to cope up with the disease.


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Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:July 15, 2022

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