Thalassemia Profile
to rule out Thalassemia
This blood test helps in ruling out a common genetic disorder Thalassemia minor or trait, so the birth of a Thalassemia major child can be prevented (which is a deadly genetic disorder). It is a must check for ~ Pregnant ladies ~ Young people of marriageable age (Premarital counseling) ~ Recently married couples ~ persistent anemia/low hemoglobin ~ Adoption of a baby and positive parental or family history. It consists of the following blood test. Fasting is not required.
- CBC
- RDW
- P/S Comment
- ESR
- Iron
- TIBC
- Hb Chromatography by Latest HPLC method on D10 Hemoglobin System from Bio Rad, USA. For HbA2 & HbF values to rule out Thalassemia.
What is Thalassemia
Thalassemia is a Genetic Disorder. It is usually of two types- Thalassemia Major and Minor. Thalassemia Major is a serious and deadly disorder while Thalassemia Minor is a mild condition.
- A Thalassemia Major Child suffers from severe anemia and is dependent on blood transfusions throughout its life. It is because both the two genes responsible for producing normal hemoglobin are impaired.
- Treatment is painful and expensive, costing almost a lakh of rupees every year.
- More than 10000 Thalassemia major children are born in India every year.
If both husband and wife are diagnosed as Thalassemia Minors, there can be a risk of a Thalassemia Major Child being born in the family (25% chances or 1 out of 4 children). Thalassemia Minors are normal and healthy except that few of them may have lower hemoglobin levels.
1 out of every 25 Indians may be a Thalassemia Minor (Average incidence is 3.9% in India). There are more than 4 crores Thalassemia Minors in India. 1 out of every 15 to 20 person in Delhi may be Thalassemia Minor (Average incidence is 5-7%).
In Sindhis, Gujratis, Bengalis and Punjabis the incidence is as high as 8-10%
Can you prevent the birth of a Thalassemia Major child in your family? YES,
only if you are aware that you are a Thalassemia Minor! Thalassemia Minor condition can be suspected by a simple blood test CBC (Complete blood counts- Low Hb, MCV (70) & RDW (40), however it is confirmed by a blood test that measures-
'Hb A2' in blood by HEMOGLBIN CHROMATOGRAPHY (HPLC)
If the Hb A2 value is more than 3.8, you may be a confirmed case of Thalassemia Minor, However,
- If you are not a Thal Minor, no precaution is required.
- If you are a Thal Minor and unmarried, do not marry a Thal Minor.
- If you are a Thal Minor and married, get your spouse tested for Thal Minor condition.
- If you spouse is not a Thal Minor, no precaution is required.
- However, if both you and your spouse are Thal Minors, consult your doctor for genetic counseling before conception and get diagnosis done to rule out Thalassemia major in the unborn child so the pregnancy can be terminated if desired by the parents.
At any age after the child completes the age of 6 months.
Who to test?
- Adoption of a baby
- Persistent anemia not improving with treatment
- In case of positive parental or family history
- However, it should be mandatory for:
- Pregnant women
- Young people/couple of marriageable age (Premarital counseling)
- Recently married couples