Thalassemia – A Blood Disorder – An Awareness

Thalassemia is an inherited blood disorder that passes to children from parents through genes. In this disease, blood doesn’t make hemoglobin’s essential blood protein. An essential part of red blood cells, this protein carries oxygen from the lungs to cells and vice versa as CO2. Thus, it may cause shortness of breath, tiredness, and anemia.

Apart from inheriting, the disorder causes because by genetic mutation or deletion of gene fragments. The simplest form of the disorder, thalassemia, has two more serious.

  • Alpha thalassemia
  • Beta thalassemia

Both of them have different subtypes and symptoms.

Symptoms of thalassemia

From varied thalassemia symptoms, here are some common ones:

  • Dark urine
  • Pale skin
  • Face bone deformities
  • Excessive tiredness
  • Fatigue
  • Delay in growth

Although, symptoms are not visible during birth but in childhood or teenage years.

Causes of Thalassemia

The formation of abnormal or mutated genes involved in hemoglobin production causes thalassemia. These inherit genetic abnormality passes from parents.

How does it work?

  • If one parent is a thalassemia carrier, you may develop minor thalassemia.
  • If both parents are thalassemia carriers, a child develops more complex thalassemia.

Thalassemia Diagnosis

The blood sample is one of the first steps to diagnosing thalassemia. After that, the doctor will test it for anemia and abnormal hemoglobin. Apart from this, the abnormal shape of red blood cells during lab tests is a sign of thalassemia. In hemoglobin electrophoresis, the technician separates molecules and identifies the abnormal cells.

Doctors also make physical examinations because of the several symptoms of thalassemia.

Types of thalassemia and their treatments

The type of treatment depends on the type of thalassemia disease. These treatments include Blood transfusion, bone marrow transplant, gallbladder removal, or medications. Let’s discuss the treatment of disease type. From three primary types of thalassemia include four subtypes.

Beta thalassemia:

When the body stops producing beta globin, beta thalassemia occurs. In this type, each parent carries thalassemia, which is inherited. It has two subtypes known as:


It is the most severe form of beta thalassemia. The symptoms of this disease appear before the first and second years of childbirth. In addition, the disease shows some anemia-related conditions that can be life-threatening. It includes symptoms like fussiness, frequent infections, enlarged organs, poor appetite, paleness, etc.

Treatment: This type of thalassemia usually requires regular blood transfusions.


It is less severe than a major one. It develops because of the alteration of both beta globin genes. But, a person with intermedia thalassemia doesn’t need a blood transfusion.

Alpha thalassemia:

When a body can’t make alpha globin, it develops alpha thalassemia. In this case, the child doesn’t have two alpha globin genes from each parent. They categorized it into two types known as:

Hemoglobin H:

When a person misses three alpha globins or undergoes modification, it develops hemoglobin H. It leads to bone issues, especially in facial bones.

Hydrops Fetalis:

The highly severe type of thalassemia disease occurs before birth. In this type, babies are primarily stillborn or die shortly after birth. The condition develops when all four alpha globin genes are missing or altered.

Thalassemia minor:

Ir can be of two types. Two genes are missing in the alpha and minor beta cases; one gene is missing. Usually, people with this type of thalassemia don’t have any symptoms. However, they play a role as thalassemia carriers that affect their future generations.

In brief

The outlook of thalassemia depends on the disease. A person with minor thalassemia may lead an everyday life. But, liver disease, heart failure, abnormal skeletal, and other issues in severe cases. With this diversity, consult a doctor for information and ways to improve quality of life. All we can do for now is Be aware, share and care.

Content Reviewed by – Asian Hospital Medical Editors