A strong tendency of consanguineous marriages among the family members with haemoglobin disorders has emerged to be a major cause of recessive genes, including that of thalassemia, getting trapped within the extended family.
A pilot study of screening for thalassemia conducted by Dr Shoaib Ahmed, Armed Forces Institute of Pathology-Rawalpindi established that screening in such families could provide a cost effective method of identifying carriers.
The strategy was said to be extremely relevant as thalassemia screening of the whole population of Pakistan could be neither possible nor desirable.
Dr Shoaib Ahmed said mentioning that there were over 10,000 thalassemic children registered with a large number of NGOs.
Experience of targeted screening was said to have shown that between 30 percent to 40 percent of the family members with history of thalassemic child, may be thalassemia carrier.
The researcher on basis of his study strongly recommended that screening of thalassemia in the index families could produce a high yield of carriers and at risk couples.
This was said to be all the more relevant as families often already understand the condition because of the affected child in the extended family.
The screening for thalassemia among the index families was further said to help avoiding the problem of a low level of literacy as information and personal experiences are communicated directly among the families attending the center with affected children.
Dr Shoaib Ahmed said the strategy will also avoid the problem of a weak health care infrastructure because it can be run from the center where the disorder is diagnosed and tested.
The approach was also said to be compatible with the practice of consanguineous marriages as carrier of screening can allow marriage between close relatives if any of the member of a couple are found to have thalassemia.
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