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THALASSEMIA

THALASSEMIA

Thalassemia is an inherited blood disorder i.e. passed from parents to children via genes. Thalassemia is caused when the body is unable to make enough hemoglobin, a protein molecule in red blood cells that carries oxygen in the body.

Thalassemia and hemophilia both are inherited blood disorder but the root cause is different. Hemophilia caused by lack of blood clotting factor proteins while thalassemia caused by lack of hemoglobin.

Cause:

Thalassemia is a genetic abnormality that is inherited from parents and causes an abnormality or mutation in one of the genes responsible for hemoglobin production. The severity of thalassemia depends on parents if only one parent is a carrier, then the person only develops a form of disease known as thalassemia minor and if both parents are carriers, then there is more chance to inherit with a serious form of disease.

Types:

Hemoglobin contains two types of proteins like alpha and beta that’s why thalassemia mainly is of two types:

Alpha thalassemia- When body is unable to produce enough alpha protein.

Beta thalassemia- When body is unable to produce enough beta protein.

Symptoms:

There are various types of signs and symptoms but most common are:

Fatigue

Weakness

Slow growth

Dark urine

Pale or yellowish skin

Enlarged spleen

Poor appetite

Treatment:

Some treatments are like:

Blood transfusion

Bone marrow transplant

Medications and supplements

Surgery to remove spleen or gall bladder.

Reference:

https://www.webmd.com/a-to-z-guides/what-is-thalassemia

https://www.medicalnewstoday.com/articles/263489#treatment

https://www.healthline.com/health/thalassemia#causes

https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995