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Paper Topic:

Thalassemia

THALASSEMIA

Thalassemia

THALASSEMIA PAGE 1 OF 4

Thalassemia is an inherited blood dis . It is a single gene dis , and it is the most common of this type in the world (Northern California Comprehensive Thalassemia Center [NCCTC] 2006 ,

. 1 . It causes mild to severe anemia due to a reduced hemoglobin count and a reduced red blood cell count (National Heart Lung and Blood Institute [NHLBI] 2006 ,

. 1 . This disease was once universally fatal , but with current medical treatment longer life spans are being realized (NCCTC 2006 ,

.2

p Hemoglobin contains two different chains of protein . These are the alpha globin chain and the beta globin chain . If the genetic defect involves the alpha chain , then the individual is afflicted with Alpha Thalassemia . Those who have the beta chain affected have Beta Thalassemia . The severe form of Beta Thalassemia has also been named Cooley 's anemia (NHLBI 2006 ,

. 2

Since Thalassemia is a genetic dis , it is not contagious in any way . The disease is passed on from parents to their children through defective genes . Both male and females are equally affected . Alpha Thalassemia tends to affect those with Southeast Asian backgrounds , such as China , India , or the Philippines . Beta Thalassemia affects those who have Middle Eastern heritage . This would include Greece , Italy Lebanon , and Isreal . It also affects those from Asia and Africa (NHLBI 2006 ,

. 2

There are four genes that code the alpha globin portion of hemoglobin Each parent contributes two of these genes . If one or more of these are either abnormal or missing , the result is Alpha Thalassemia Individuals that have only one gene either missing or abnormal have no sign or symptoms of the illness and are known as silent carriers . Those with two genes involved will have minor symptoms and are carriers of

THALASSEMIA PAGE 2 OF 4

the disease . Those with three affected will be afflicted with moderate to sever anemia . If the individual has all four genes involved , they will normally die either shortly after birth or will be still born (NHLBI

. 2

In contrast to the alpha protein chain , the beta chain involves only two genes . Each parent will contribute one gene to the offspring . If one gene is defective or missing , the person will have mild anemia and will be a carrier of the disease . This is called Beta Thalassemia Minor . If both genes are defective , then the individual will be afflicted with Beta Thalassemia Intermedia , which is characterized by moderate anemia , or Beta Thalassemia Major which is severe . This form of the disease , also known as Cooley 's anemia , is rare . There were just over 500 patients so affected in the United States in 1993 (NHLBI 2006 br

. 2

Thalassemia is diagnosed through blood tests . These test will include a blood cell count (CBC ) and also hemoglobin studies . The diagnosis is made based on counts of blood cells and amount of hemoglobin , since individuals with this disease have both fewer red blood cells and less...

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