THALASSEMIA

Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.

Thalassemia is a type of inherited blood disorder that affects the body’s ability to produce hemoglobin, the protein in red blood cells that carries oxygen throughout the body. People suffering from thalassemia are unable to produce enough healthy red blood cells and can suffer from anemia, which impairs their quality of life. Thalassemia is most commonly found in people whose families come from the Mediterranean region, India and Southeast Asia, Middle East and Africa.

CAUSES 

Hemoglobin is made of two proteins:

Alpha globin

Beta globin

Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins.

There are two main types of thalassemia:

Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).

Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.

Alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China, and in those of African descent.

Beta thalassemias occur most often in people of Mediterranean origin. To a lesser extent, Chinese, other Asians, and African Americans can be affected.

There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms:

• Thalassemia major

• Thalassemia minor

You must inherit the gene defect from both parents to develop thalassemia major.

Thalassemia minor occurs if you receive the faulty gene from only one parent. People with this form of the disorder are carriers of the disease. Most of the time, they do not have symptoms.

Beta thalassemia major is also called Cooley anemia.

Risk factors for thalassemia include:

Asian, Chinese, Mediterranean, or African American ethnicity

Family history of the disorder.

SYMPTOMS

Symptoms has been expanded.

The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).

Children born with beta thalassemia major (Cooley anemia) are normal at birth, but develop severe anemia during the first year of life.

Other symptoms can include:

• Bone Deformities In The Face

• Fatigue

• Growth Failure

• Shortness Of Breath

• Yellow Skin (Jaundice)

People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms.