‘Simple intervention can help prevent thalassaemia’

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KARACHI – Pakistan, with five percent of its population estimated to comprise thalassaemic minor patients, can make use of a simple and cost-effective blood test to prevent thalassaemia Major, haematologist Dr Tahir Shamsi said on Saturday.
“Gynaecologists can play a crucial role in the prevention of the genetic blood disorder that holds extremely debilitating impact on the patients, including early deaths of the sufferers,” he said He advised obstetricians and gynaecologists to ensure that all would be mothers approaching them are tested for mean cell volume (MCV), within the first 11 to 13 weeks of their first trimester.
“This test needs to be mandatory so as to prevent a serious blood disease that cuts short the life of the thalassaemic major sufferer,” he said. He said that MCV can be easily performed without any additional expenditure along with the routine complete blood picture of pregnant women at the very onset. The MCV, which is done to assess the red cell size, if found below 75 among the expecting women, warrants similar MCV of their spouse.
“It is only when the MCV of both husband and wife is found less than 75, establishing that both are thalassaemic minor, that one can be sure that child to born to them would be thalassaemia major,” elaborated Dr Shamsi. Answering a query, he said expecting women found with MCV or red blood cell count above 75 makes the case safe with no possibility of her child to be inflicted with the serious blood disorder. The simple intervention, he said, was most viable for the country with limited resources and inadequate infrastructure required for screening of babies to be born with the ailment. To a query, he said there is 30 percent incidence of thalassaemia major reported in Sindh among the extended families of thalassanemia minor or carriers.
“There are no more than private sector six centres in Sindh – with the exception of PNS -Shifa – provide screening services,” he said. He said that masses should be made to realise that prevention was the only viable option for the genetic disorder requiring the patient to be dependent on frequent blood transfusions. The average cost for each transfusion comes to around Rs 200 to Rs 300 coupled with essential drugs to prevent complications associated with the surge in the iron load of the recipients, who owing to disease lack the natural mechanism.
The iron load, if left unchecked, can damage the essential human organs. Under the given circumstances, a special fund needs to be established for such children.
As, for treatment of the ailment, the expert said that bone marrow transplantation is the only option, which is expensive and beyond reach of the vast majority.