Thalassaemia Prevention

THALASSAEMIA PREVENTION PROGRAM

 

Pakistan has a population of over 180 million people. About 5% of the Pakistani population carries beta-thalassaemia and 0.5 to 1% carry Hb S and Hb E. The estimated rate of birth of effected infants is 1.3 per 1000 live births, and about 6,000 - 7,000 infants with beta-thalassaemia are born annually. Most of the population is unaware of the disease, only a minority of these cases are diagnosed. Out of them, 80 percent of the thalassemia patients die due to iron overload and cardiac failure and the rest with hepatitis C and other complications.

 

Thalassaemia is only manageable when it is prevented. The rapidly growing count of thalassaemia individuals in our population clearly indicate that we need to prevent thalassaemia before it’s too late!!

 

How does a child inherit the thalassaemia disorder? 

  

  thalassaemia

 

  MARRIAGE BETWEEN A CARRIER (MINOR) AND A NORMAL PERSON

 

RESULTS IN NO BIRTH OF A THALASSAEMIA MAJOR CHILDREN

50% chances of thalassaemia minor children

50% chances of normal children

  

MARRIAGE BETWEEN TWO CARRIERS (MINORS)

 

RESULTS IN 25% CHANCES OF THALASSAEMIA MAJOR CHILDREN

50% chances of thalassaemia minor children

25% chances of normal children 

 

WHAT IS THALASSAEMIA PREVENTION PROGRAM?

 

 Thalassaemia prevention program offers the first line of defense against thalassaemia!! PREVENTING THE DISEASE BEFORE IT HAPPENS…SAVING YOUR NEXT GENERATIIONS!!

 

ESSENTIAL FEATURES OF THALASSAEMIA PREVENTION 

 

PUBLIC AWARENESS

 

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 Carrier detection and premarital screening

 

Screening should be done through CBC,Hb Electrophoresis and PCR based analysis in order to detect minors (carriers).Marriage between two minors(carriers) should be avoided

 

 

GENETIC COUNSELING

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Genetic counseling, plays the most important part in thalassemia prevention program. Genetic counseling is given to individuals and in groups for the same type of thalassaemia as well. Moreover pregnant (minor) women having similar carrier partners are counseled for chronic villous sampling (CVS) in order to reduce the birth of thalassaemia major babies. Our preventive counseling is non-directive, but direct to the counselee’s concern! Appropriate time and pictorial messaging is offered to the patient’s parents and their families in the counseling session, in order to create awareness in the target population.

 

The object is to make them aware of the consequences of thalassemia disease on health and socioeconomics so that they would ask for screening and prevention, and change their reproductive plans when a possible risk is found. This, in turn, will decrease the prevalence of thalassemia disease in the future.

 

EXTENDED FAMILY SCREENING

 

The control   of thalassaemia is possible by screening of general population for carrier status and by prenatal diagnosis in couples at risk of having a child with thalassaemia. This has explored the feasibility of extended family screening to detect carriers to prevent birth of thalassaemic children and identified the barriers to its acceptance. The parents with thalassaemic child on a regular transfusion are interviewed using our extended screening forms and our results showed that most of them were more willing to share information on their thalassaemic children with relatives and friends. Relatives of most of the parents accepted the risk of being a carrier, and families got themselves tested for it so far.

 

Our goal is to make extended family screening more readily available and to motivate high-risk groups through awareness-raising thalassaemia prevention program. 

 

PRE-NATAL DIAGNOSIS (CVS Chorionic villus sampling)

 

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Pregnant Carrier women (having carrier partners) in their first trimester are diagnosed through chrorionic villus sampling,in order to reduce the chances for birth of a thalassaemia major child 

 

THALASSAEMIA PREVENTION PROGRAM

 

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SAVING YOUR NEXT GENERATION!!