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Prenatal diagnosis reduces thalassemic infants birth rate: experts

May 07, 2012 - Updated 2337 PKT
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ISLAMABAD: Screening to identify thalassemia carriers, genetic counseling and prenatal diagnosis can greatly reduce the rate of birth of thalassaemia affected infants.

According to health experts, thalassaemia is a major health problem in Pakistan and is the most prevalent genetically transmitted blood disorder with a carrier rate of 5-8%.

They said around 5000 children are diagnosed with thalassaemia major each year. They said that the only solution is public awareness through media, emphasizing that it is a preventable disease by carrier detection and avoiding marriages among them.

They said as the treatment of thalassaemia is expensive, a prevention program should be initiated in order to reduce the burden of the thalassaemia patients.

They said that thalassaemia should be included in high school curriculum and urged to start awareness program at school, college

and university level.

Dr Wasim Khawaja from Pakistan Institute of Medical Sciences (PIMS) said that thalassemia major is an inherited blood disorder in which the affected children are unable to maintain hemoglobin (Hb) in the normal range. Their bone marrow cannot form sufficient red cells and red cell survival is also reduced, he added.

He said thalassemia minors are people who carry one defective gene of thalassaemia. They are normal except that during stressful situations in life like some serious surgery or pregnancy they may

have low hemoglobin.

He said thalassemia major is a serious blood disorder, which causes severe anemia and related complications. This is caused by the presence of two defective genes.

He said when both parents are thalassemia minors or carriers, there is a 25% chance of birth of a thalassaemia major child, 25% chance of a normal child and 50% chance of a thalassemia minor child.

He said patients need regular blood transfusions every three to eight weeks to maintain normal hemoglobin levels. He said that due to regular blood transfusions, there is a high chance of thalassemics being exposed to blood infections like HIV, hepatitis B and malaria. (APP)


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