Thalassemia: A Rare Blood Disorder Related to Hemoglobin

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Thalassemia is a genetic blood disease. People suffering from it are not able to produce enough hemoglobin, Which became the reason for severe anemia. Red blood cells contain hemoglobin and it carries oxygen to different parts of the body. If there is a lack of hemoglobin in the red blood cells, oxygen cannot reach to all parts of the body.

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What Is Thalassemia?

It is a genetic blood disorder in which the body produces an abnormal form of hemoglobin. Hemoglobin is the molecule present in red blood cells which is responsible for carries oxygen. The disorder results in excessive loss of red blood cells (RBCs), which tends to anemia. In Anemia, your body doesn’t have sufficient normal, healthy red blood cells. Thalassemia is genetic, it means that one of your parents must be a carrier this disorder.

Symptoms of Thalassemia:

Most babies with beta- and certain types of alpha thalassemia do not experience symptoms until 6 months of age. This is because newborns have a different type of hemoglobin called fetal hemoglobin. After 6 months, “normal” hemoglobin begins to replace the fetal type and symptoms can begin to appear.

Common Signs and Symptoms May Include:

  • Fatigue
  • Weakness
  • Pale or yellowish skin
  • Facial bone deformities
  • Slow growth
  • Abdominal swelling
  • Dark urine

What are the Types Of Thalassemia?

There are three main types of this disease:

Beta Thalassemia:


This type of condition happens when your body can’t produce enough beta globin. Two genes inherited one from each parent are responsible to produce beta globin. It has two serious subtypes: thalassemia intermedia and thalassemia major (Cooley’s anemia).

The severe anemia can be life-threatening. Other signs and symptoms include:

  • Fussiness
  • Paleness
  • Frequent infections
  • Poor appetite
  • Failure to thrive
  • Jaundice
  • Enlarged organs

Alpha Thalassemia:


This type of condition happens when your body can’t produce alpha globin. Four genes inherited two from each parent are responsible to produce beta globin.

It has also two serious subtypes: hemoglobin H disease and hydrops fetalis.

It is extremely severe that occurs before birth. Most of the people with this condition are either die shortly after being born or stillborn. This condition occurs if all four alpha globin genes are missing or altered.

Other signs and symptoms include:

  • Bone issues
  • Excess growth of cheeks, forehead, and jaw
  • Jaundice
  • Malnourishment

Thalassemia Minor:

This type of condition doesn’t have any serious symptoms. If any symptoms exist, then it’s to be minor anemia. It can be either alpha thalassemia minor or beta thalassemia minor. In the case of alpha minor cases, two genes are missing. In beta minor, one gene is missing.

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What Causes Thalassemia?

It is a genetic defect and you inherited it from your parents. It happens when there’s an abnormality in one of the genes occurs in hemoglobin production.

If only single parents are having the disease, you may develop a thalassemia minor. Usually, it doesn’t have any symptoms, except minor anemia.

If both of your parents are having it, there is a greater chance of inheriting a more serious form of the disease.

What are the Risk Factors Of Thalassemia?

If you have a family history of this disease, you have an increased risk of the disease.
It occurs often in people of Mediterranean and Southeast Asian ancestry.

Conclusion:

Here we have discussed thalassemia along with its symptoms, types, and causes and we get to know that it is a genetic disorder. So, In most of the cases, you can’t prevent it due to these genetic disorders. If you have it, or if you are carrying a thalassemia gene, it is advisable to talk with a genetic counselor for guidance if you’re planning for children.

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