THALASSEMIA - DR GHULAM YASEEN

THALASSEMIA

THALASSEMIA

It is a hereditary blood disorder in which your body form less hemoglobin and very few red blood cells, as compared to the normal healthy individual. Hemoglobin is a blood protein that carries oxygen to the cells of the body. Deficiency of hemoglobin causes anemia and leaving you fatigued. If you have mild symptoms of anemia you may not need to worry for treatment. If you have severed type of anemia, then you have to go for blood transfusions, regularly.

Sign and symptoms of Thalassemia

Sign and symptoms of thalassemia may include the following:

  • Weakness
  • Fatigue
  • Facial bone deformities
  • Swellings in the body
  • Growth retardation
  • Shady Urine
  • Pale and yellow complexion

Sign and symptoms depend upon the severity and type of thalassemia. Alpha-thalassemia, Thalassemia intermedia, Cooley anemia are the common types of thalassemia. In the severe type of thalassemia, sign and symptoms appear as the baby born. While in the case of others, children develop symptoms within the first two years of life.

Causes

A mutation in DNA, that makes hemoglobin, cause thalassemia. This mutated gene pass through generations. Thalassemia disrupts the normal production of hemoglobin and RBCs.With less hemoglobin and few red blood cells, you develop anemia and feel fatigued all the time.

When to see a doctor

If you notice continuous decline health of your child, with any symptom of thalassemia, visit your child’s specialist immediately.

Types of Thalassemia

The severity of thalassemia depends upon the number of gene mutations.if you have the single gene mutation, you thalassemia isn’t severe. If these mutations involved a number of genes then, thalassemia is more severe. Hemoglobin molecules are composed of alpha and beta particle, the effect of mutations on these particles

 

 

Alpha-Thalassemia

There are four genes that are involved in the formation of the alpha-hemoglobin chain. You get two from each parent .if you inherit:

  • 1 mutated gene, you may not have any sign and symptoms of thalassemia, but you are a carrier and you have an ability to pass it on, in your generation.
  • 2 mutated genes indicate mild sign and symptoms of thalassemia. This is called alpha-Thalassemia.
  • 3 mutated genes, specify moderate to severe sign and symptoms of thalassemia.
  • 4 mutated genes, this condition is very rare. With this condition, life expectancy is rare-Fetuses born with severe anemia. They often die shortly after birth or require a blood transfusion, throughout life. Baby born with this condition has to receive a blood transfusion or undergo bone marrow transplant.

 

Thalassemia minor

There are two genes that make the beta hemoglobin chain. You get 1 from each of your parents. If you inherit

1 mutated gene, you may have the very mild sign and symptoms of thalassemia. This condition is called beta thalassemia or thalassemia minor.

2 mutated genes, this condition is called thalassemia major. Babies born with these 2 mutated genes are healthy often at the time of birth. But they develop sign and symptoms, moderate to severe in the first 2 years of life. A Milder form of thalassemia major is called thalassemia intermedia, with 2 mutated genes of beta hemoglobin chain.

Prevention

If you carry a thalassemia gene, you can prevent it. But you need counseling about thalassemia. When you think about having your children, first consult a genetic counselor. If you have thalassemia, you can fight with it. We’ll help you.

Treatment at Saher Homeo Clinic

Here, we treat every individual at the genetic level. Every individual seeks treatment on the basis of symptoms and health condition. We have a number of completely well managed cases.

 

 

 

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