Genetic Disorder - Beta-thalassemia

Beta - Thalassemia

The genetic disorder I researched was Beta-thalassemia. This is when the blood protein - beta globin - is absent from red blood cells. The red blood cells die, causing anemia. This disorder is recessive, so the person has to inherit 2 copies of the mutated beta globin gene - one from each parent.

SIGNS AND SYMPTOMS

The more severe the disorder, the more severe the symptoms will be. Carriers of thalassemia usually have no symptoms. However, if the person has the disorder, some symptoms include:

• stunted growth


• enlarged spleen (and other organs)


• bone problems


• fatigue


• poor appetite


• jaundice (yellowing of skin, or whites of eyes)

DIAGNOSIS/DETECTION

As you can see, thalassemia cells are not a perfect round shape, like normal red blood cells.

Beta-thalassemia can be diagnosed by taking a blood sample from an infant and looking at it under a microscope. Affected cells will appear oddly shaped and pale in color. Another test measures the MCV (mean corpuscular volume) in blood. The amount of hemoglobin in the blood can also determine if the infant has the disorder.

TREATMENTS

If a person has Beta-thalassemia, blood transfusions are needed for the individual to grow and survive. Therapy for removal of extra iron in the blood is also necessary (because the extra iron is being introduced by blood transfusions).

HOW COMMON IS THE DISORDER?

Thalassemia is most common in people from the Mediterranean, Africa, and South East Asia. In Mediterranean areas, 1 in 10 people can have Thalassemia. It is not as common in the United States; however, approximately 2 million Americans may have some form of the disorder.

LIFE EXPECTANCY

If left untreated, the life expectancy for someone with Beta-thalassemia is about 30 years of age. If the case is milder, the person can live to around the normal life span.