KARACHI: Karachi Indus Hospital Pediatrics Department Head Dr Muhammad Fareeduddin said on Tuesday that cousin marriages and marriages within clans are one of the major causes of genetic disorders in our country. He expressed these views while speaking at a press conference on genetic disorders at Karachi Press Club.
The press conference was held in relation to the upcoming World Rare Diseases day which is on 28th February every year. The basic motive to observe this day is to create awareness among the people about the genetic conditions that lead to the rare diseases.
There are a group of more than 100 disorders out of which 50 are said to be common disorders and few of them are also treatable in Pakistan.
The major reason for these inherited disorders is cousin marriage or marriages within the same clan or families and ethicality. Ideally, it is said that every couple should get their genetic testing done before marriage.
These deficiencies cause the material to get inappropriately stored in these special compartments of the cells. Over time, the amount of material building up in each lysosome causes it to swell and occupy more space in the cell, leading to additional problems for normal cellular function. Cells thus become dysfunctional and may die, resulting in a wide variety of clinical symptoms.
Until now, all over Pakistan, more than 350 such diseases have been diagnosed in different patients but hardly less than 10 percent are treatable.
The basic problem with this treatment is its higher cost. At present, public-private partnership is able to treat these disorders and there is a need for the government to take initiative on these issues too so that these patients get treatment.
Dr Saba Abbasi, a medical expert at Sanofi Genzyme said, “The samples are sent out of the country for diagnosis and Sanofi Genzyme is providing free of any charge. We will continue our support to patients with genetic disorders in Pakistan.”
The patients along with their families were also present at the press conference.
