KARACHI: Marriages within close relations (cousin marriages) and within clans is a major cause of genetic disorders in Pakistan, experts said on Tuesday.

Addressing a press conference on the topic of genetic disorders at the Karachi Press Club, marking World Rare Diseases Day, Dr Mohammad Fareeduddin, head of paediatrics, Indus Hospital, said the basic motive to observe the day was to create awareness among the people of 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 a few of them are treatable in Pakistan too.”

He said the major reason for such inherited disorders was cousin marriages within the same clan or families.

“Ideally every couple should get their genetic testing done before marriage.

These deficiencies cause material to get inappropriately stored in these special compartments of 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.”

“In Karachi we at Indus Hospital have treated four patients of Gaucher disease, and one with Pompe. One Pompe patient is under treatment at NICH,” he said.

He said the only basic problem with that treatment was its higher cost.

“We want to urge the government to take initiative on these issues as well to offer these children the choice of treatment they deserve.”

Dr Saba Abbasi of Sanofi Genzyme said the samples were sent out of the country for diagnosis and her organisation was providing it for free.

Published in Dawn, February 28th, 2018