About Thalassemia

                      

                                               

What isThalassemia ?

Thalassemia is a genetic blood disorder in which a patient cannot make enough Red Blood Cells and needs to be supplemented with RBC transfusions every 2-3 weeks to stay healthy and to survive. 

Types Of Thalassemia

Alpha Thalassemia

The alpha thalassemia is caused by a decrease in production of alpha globin chains due to a deletion or mutation of one or more of the four alpha globin genes located on chromosome 16. Alpha gene mapping can be obtained to determine the specific mutation. The alpha thalassemia can be generally categorized as:

Silent Carrier Alpha Thalassemia Trait Hemoglobin H disease Hemoglobin H-Constant Spring Alpha Thalassemia major

Alpha Thalassemia trait in a parent is often dicovered after the birth of an effective child.

Beta Thalassemia

Minor/carrier/trait : They appear perfectly healthy, however where two carriers decide a family there is one in four chance that their child could inherit their carrier genes and develop Beta Thalassemia Major, one in four of a child being normal and 50% chance of the child also being a carrier. Thalassemia Intermedia : A clinical expression for a condition between Carrier and Major .They often run a hemoglobin of 7-9 g/dl. They need transfusions only at times as their Hb drops with infection or any stress on the body. Especially during pregnancy or leg ulcers(seen with chronic hemolytic anemias ). Thalassemia Major : This condition requires intensive medical care,including 2-3 weekly transfusions and desferrioxamine injections, infused daily,for 8-12 hours at home. Associated with chronic diseases such as diabetes, growth and puberty failure and early menopause and blood transfusion complications such as hepatitis C, hepatitis B and HIV infections. The treatment and management is a financial and psychological burden on the patient and family.

Thalassemia is a genetic disease. This means that : 

Testing For Thalassemia

A SIMPLE Blood Test called Hb ELECTOPHORESIS / Hb A2 will tell you whether you are a carrier or have a trait of thalassemia minor.

During Pregnancy there are three ways to test the foetus for thalassemia status :

CVS - Chorionic Villius Sampling (done in 8-10 weeks of pregnancy) Amnicentesis - done in 14-18 weeks of pregnancy Fetal blood Testing : Fetal blood from the umbilical cord of the foetus in the womb (done in 18-20 weeks of pregnancy) Safety and Accuracy : CVS and Foetal Blood Sampling has a reported miscarriage rate of 1 in 100 tests and Amniocentesis 1 in 200.

Foetal blood Testing : Foetal blood from the umbilical cord of the foetus in the womb (done in 18-20 weeks of pregnancy)