Simple, affordable tests can prevent genetic disorders

Over 400 genetic disorders are present among the UAE's populace, however, its continued spread can be prevented by simple and affordable tests, some costing as little as Dh30, according to local health experts.
Dr Ebtehaj Al Anizi, Obstetrics and Gynaecology specialist, told Khaleej Times that genetic disorder prevention tests are crucial, especially when it comes to consanguineous marriages. However, she stressed that not all couples take the results, nor the doctor's advice seriously, leading to devastating consequences for their offspring's health.
"As marriage between relatives is common in the region, so is the risk of genetic diseases. A lot of high risk couples do no listen to us when advised not to go ahead with the marriage," Dr Al Anizi said.
Dr Al Anizi said the most common genetic disorders in the UAE include thalassemia, sickle cell anaemia, G6PD deficiency, cystic fibrosis and haemophilia. Raising awareness about the suffering of future children who could inherit the disease is vital. "If both parents are thalassemia minor, then their offspring, who will have thalassemia major, will suffer greatly. The child will have chronic anaemia, and their lives will depend on frequent blood transfusions."
Dr Al Anizi said this is when doctors often advise couples to not get married. "These kids suffer a lot: they have anaemia, fatigue, the structure of their faces and bones change, they have enlargement in the belly, and unfortunately, often die before they reach 10."
She said sick cell disease can also be prevented in the next generation, by testing both parties. "If the child inherits this disease, it really is a crisis for the entire family."
Premarital tests important
Dr Al Anizi stressed that common health problems, including a severe drop in oxygen levels, body and chest pain, as well as fatigue, will arise. "Children are often admitted to the emergency department and need heavy medication and painkillers. The pain is intolerable.
"Premarital tests are so important, but what's most important is for couples to understand the consequences of their union."
Dr Mariam Mater, founder and chairperson of the UAE Genetic Diseases Association (UAE GDA), said prevention tests are accessible in the UAE and are cost effective in the long run. "The cost of genetic screening of thalassemia is Dh120, and the cost of treating a patient is Dh35,000 per annum."
She stressed that the risk of neural tube defects, which are also common in the UAE, can also be prevented by a course of folic acid, which costs approximately Dh30, whereas treating a neural tube defects case costs a whopping Dh2.7million.
"Prevention is the key in reducing the impact of genetic disorders, socially and economically, and is a long-term sustainable solution, especially in a country like ours where close to 60 per cent of the population is under 30 years of age."
Genetric engineering helps
Genetic engineering could help couples in the UAE conceive healthy children. Dr Rashmi Mathai, Internal Medicine specialist, Universal Hospital, said a recent research in the US revealed that genetic engineering may help curb the manifestation of genetic disorders in the next generation, which will be a huge relief for couples in the UAE, if made available in the country.
"A patient carrying a mutation that carries a genetic disease, such as cystic fibrosis, may simultaneously carry a mutation in another gene that buffers the effect of the harmful gene. This buffer gene unravels a whole new treatment modality for those carrying genetic diseases.
"This type of genetic engineering will certainly help a lot of couples if it comes to the UAE," Dr Mathai said.
However, Dr Mathai pointed out that couples in the UAE cannot depend on waiting to see what the future of genetic engineering unravels, and must thus opt for what is already available, to help prevent the increasing genetic diseases statistics. "The closer the blood relation between the spouses, the higher the chance the children will carry the disease. Public awareness and premarital counselling are the most important aspects, because it could help save lives."

source: Khaleejtimes