‘Marriages within clans for generations lead to genetic disorders’

Cousin marriages and marriages within clans is one of the major causes of genetic disorders in our country, said Dr Muhammad Fareeduddin, head of paediatrics, Indus Hospital, Karachi, on Tuesday.

Speaking at a press conference on genetic disorders at the Karachi Press Club, he said World Rare Diseases Day was marked on February 28, and the basic motive to observe this day was to create awareness among the people about the genetic conditions that led to rare diseases.

These are basically a group of more than 100 disorders, out of which 50 are common disorders and few of them are treatable in Pakistan too. The major reason for these inherited disorders is cousin marriage or marriages within the same clan or families and ethicality. Ideally every couple should get their genetic testing done before marriage.

These deficiencies cause 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 have been diagnosed, but hardly less than 10 per cent are able to be treated. The rest of them are either waiting for the treatment or have lost their lives.

In Karachi, Dr Fareeduddin said, Indus Hospital had treated four patients of Gaucher disease, one of pompe. He added that one pompe patient was under treatment at the NICH, and no patients of MPS-1 were found or were under treatment in Karachi.

“We want to create awareness about what are the clinical conditions that will lead to these genetic disorders, how it is presented and what are the outcomes. Very few most common disorders are not only treatable, but these patients are able to lead the normal life if timely picked and treated.”

The only basic problem with this treatment is its higher cost. At present, private0public partnership is able to treat these disorders and we want to urge the government to take initiative on these issues too so that these children/patients are given the choice of treatment what they deserve, he said.

Dr Saba Abbasi, Medical Lead 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 of genetic disorders in Pakistan.” Patients along with their families were also present at the press conference.