Doing away with genetic disorders

Reem Leila , Tuesday 27 Sep 2022

A presidential health initiative seeks to stem hereditary diseases, reports Reem Leila

Doing away with genetic disorders
Doing away with genetic disorders


The Ministry of Health has finished screening 180,000 newborns against 19 types of hereditary diseases. The screening process, held in 25 health units in 17 governorates, is part of the presidential initiative “Early Detection of Genetic Diseases among Newborns”. The two-phase initiative, part of the 100-Million Health campaign, aims at sparing future generations from hereditary diseases which often result in various forms of disabilities.

The first phase which started in July last year screened infants born only in hospitals affiliated to the Ministry of Health. The second phase, which will start early next year, will include babies born in university hospitals, private hospitals and health units all over the country. According to Hossam Abdel-Ghaffar, the spokesman of the Ministry of Health and Population, the second phase will also be “generalised” in all governorates. “The screening, follow up, and medical treatment services are all provided for free,” Abdel-Ghaffar said.

He noted that the examination includes having a blood sample taken from the child’s heel that is then analysed at the Egyptian Centre for Disease Control (ECDC), which, he added, has the most advanced equipment for detecting genetic diseases.

During the second phase, the ministry will provide screening services for the parents, brothers, and sisters of infants who suffer genetic disorders. Screening parents and close relatives would help in preventing genetic disorders in future generations, Khaled Al-Oteifi, head of the ministry’s General Administration for Disability Reduction, pointed out. “When a relative is found to be carrying the gene of any disorder, we advise him or her to marry someone who is free of this disorder as this helps in reducing the infection of this genetic factor to minimal levels,” Al-Oteifi said.

The transmission of genetic traits may pass from one generation to another unless the couples are not relatives, Al-Oteifi continued. The incidence of transmission of genetic diseases in children of a related couple is 1/36, while that percentage decreases to 1/10,000 if the spouses are not related.

At the ministry’s 25 centres, doctors conduct a detailed study of the family’s medical history, and medical and genetic analysis, said Al-Oteifi, who added that the chances of birth defects multiply even if there is no history of genetic diseases in the family due to marriages with cousins, ​​whether maternal or paternal. Giving birth at a late age increases the chances of developing chromosomal abnormalities, another major cause of genetic diseases, he added.

Hala Abdel-Rahman, coordinator of the initiative for early detection of genetic diseases at the Ministry of Health, stressed the interest of the political leadership in eliminating genetic diseases. Treatment of genetic diseases and their symptoms depends on their early detection, Abdel-Rahman said, adding that among the genetic diseases that can be treated if detected early are biochemical genetic defects that can be treated early before the child develops mental retardation.

Phenylketonuria (PKU), a metabolic disease prevalent in Egypt, is diagnosed during the first week of the child’s life via blood tests. When the infant is proven positive, he or she is medically treated as well as provided with special nutrition. “If this disease is not treated on time the infant will immediately develop mental and physical deficiencies,” Abdel-Rahman said.

There is also galactosemia which, according to Abdel-Rahman, is a recessive genetic disease of biochemical metabolic disorders, resulting from a defect in the representation of the sugar galactose in milk. Abdel-Rahman quoted a recent study conducted by the National Research Centre: “Treatment of such disease takes place during pregnancy by directing the mother to eat a galactose-free diet.”

She said there were many other diseases that can be treated, such as thyroid hormone deficiency, “and the state provides treatment free of charge to all newborns.”

*A version of this article appears in print in the 29 September, 2022 edition of Al-Ahram Weekly.

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