Beta Thalassemia

Few years ago, when I was doing medical body checkup for the entry of university, I found out that actually I am having beta thalassemia minor. I was so scared, but doctor said that generally I do not have any health problem except possibly minor anemia. So I was advise to take nutrition diet.

Maybe a lot of people have heard about it, it is common for Asian, especially female. In Chinese, it called 地中海贫血症。Thalassemia is an inherited disorder that affects the production of normal hemoglobin.

Normal hemoglobin is made of two substances:

• Heme, the nonprotein portion of hemoglobin, contains iron and gives the blood its color. It is the part of the molecule that attaches to oxygen.


• Globin is the group of four protein molecules that bind to the iron in heme molecules to form hemoglobin. The two main types of globin proteins are called alpha and beta. If the body has an imbalance in the two proteins the red blood cells cannot carry enough oxygen.

Thalassemia is caused by a defect in one or more of the genes that hold the instructions for producing hemoglobin. It is an inherited blood disorder, passed from parent to child. To have the disease, you must inherit a gene for the disease from both parents. Most people who inherit thalassemia are Asian, Filipino, Mediterranean, Middle Eastern, or, less frequently, of African descent.

The two main types of thalassemia are classified according to how specific genes malfunction and interfere with normal hemoglobin production.

Alpha Thalassemia
Alpha thalassemia occurs when one or more of the four genes that hold the instructions for making alpha-globin are missing or damaged. Alpha thalassemia mainly affects people from southeast Asia, China, and the Philippines, although it occurs in many populations throughout the world and sometimes is seen in people of African descent.

Beta Thalassemia
Beta thalassemia is the most common form of thalassemia. It occurs when one or both of the genes that hold the instructions for producing beta-globin are inactive or only partly active. It mainly affects people from the region around the Mediterranean Sea (such as Greeks and Italians) and, less often, people of African or Asian descent.

Beta Thalassemia Minor or Beta Thalassemia Trait
It is caused by one damaged beta-globin gene, so it is only a small lack of beta protein, so generally there are no health problem except possibly mild anemia and no treatment is needed.

Beta Thalassemia Intermedia
Enough beta protein lacking to cause moderately severe anemia and significant health problems such as bone deformities and enlarged spleen.

Beta Thalassemia Major or Cooley's Anemia
Both (two) beta chain genes have deletions, causing the most severe type of beta thalassemia. Hence, no beta protein is created by the body, so regular blood transfusions and medical care are necessary, and may not survive a normal lifespan. A major problem is the build up of iron in the heart and other organs, resulting in heart failure for some patients in their teens or early twenties.

Thalassemia major is inherited by an autosomal recessive gene, which means that two copies of the gene are necessary to produce the condition, one inherited from each of two carrier parents who have thal minor. Hence doctor advised me, when I am looking for future husband, remember to ask whether is he carrier of this disease.

Symptoms of Thalassemis
Mild thalassemia usually does not cause any symptoms. However, symptoms of anemia may develop in more severe forms of the condition and may include:

• Weakness


• Fatigue


• Lightheadedness


• Pale skin


• Dark urine


• Decreased appetite and weight loss (poor growth in a child)


• Rapid heartbeat


• Shortness of breath during exercise

For the daily diet, food rich in iron should be avoided. Vitamins C and E and folic acid are added as supplements.