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What is Thalassemia?

Thalassemia is a group of disease that prevent the body from producing sufficient blood volume and quality. This condition is caused by changes in the genes that control the production of hemoglobin. Hemoglobin is the protein in red blood cells that carried oxygen throughout the body. Changes to the hemoglobin can lead to severe anemia.

The human body depends on the level hemoglobin is functioning properly.

Thalassemia is a hereditary disease that is inherited from a parent to child through genes. Both boys and girls have the opportunity to develop the disease. It is not spread through blood transfusions, air and water, or through physical or sexual contact also can be caused by malnutrition or health problems.

How thalassemia is inherited from parents to children?

Every human being has two types of gene, one inherited  from the mother, the other from the father. Among these genes, there are two genes that control the formation of hemoglobin found in red blood cells. Let’s look at an example of 3 different pairs:

  • Both parents are normal. They could not pass on thalassemia or thalassemia major to children.
  • One parent of a thalassemia and one is normal. Each child has 1 in 2 (50%) chance of inheriting the thalasseamia gene from the other parent being a carrier, it is likely the child will have thalassemia. It is also 1:2 (50%) chance for the child to inherit a normal gene from the carrier parent. If this happens the child is in normal condition. None of this couple’s children have thalassemia major.
  • Both parents are carriers of thalassemia, they are the ones at risk.

Both partners are have the opportunity carrier 1:4 (25%) have a chance in every pregnancy and childbirth with thalassemia major, 1:2 (50%) chance of having a child with thalassemia trait, and 1:4 (25%) of the children had the opportunity to inherit a normal gene from both parents and it is free of the disease.

Early Symptoms in Children:

  • Appears normal at birth. However it slowly the child was pale and worsen with age 6-18 months.
  • Flatulence caused by swelling of the liver and spleen
  • Anemia can cause severe shortness of breath
  • The children look tired and nervous
  • Skin appear yellowish (jaundice)
  • Changes in facial bone
  • Lack of appetite

What are the consequences if untreated thalassemia?

If untreated, patients with thalassemia will have symptoms as described above and can lead to death due to severe anemia.

Although blood transfusion is performed repeatedly throughout life can save lives, but it also can cause serious side effects caused by excess iron in the body of patients with thalassemia. In the long term, patients with thalassemia will result in the accumulation of iron in the body mainly in the liver, heart and endocrine (hormone-producing). This collection will eventually cause a disruption to the normal functioning of the heart, liver and also contributed to the delay in growth and sexual maturation. These complications can be avoided with iron chelation regularly.


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