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