Sickle cell disease needs not be a barrier in marriage. Experts say when individuals with sickle cell trait marry, through neonatal screening it is possible to detect and start early treatment of children with sickle cell disease, thus improving their chances of living to adulthood, reports Sade Oguntola.

Sickle cell disease is one that many people see as a killer of children, probably because children with this ailment get sick very often, frail and are usually in and out of the hospital. Sickle cell anemia (sickle cell disease) is inherited in a type of genetic lottery and is not contagious. It happens when both parents have sickle cell trait – a single sickle cell gene carried by up to one-quarter of people in some parts of Africa, including Nigeria.

Up to two to three per cent of Nigerians have sickle cell disease and when both parents carry sickle cell trait, each of their children has a one-in-four chance of having sickle cell anaemia, the most common type of sickle cell disease. There is also a one-in-four chance that the child will not have sickle cell anaemia as well as a 50:50 chance the child will inherit sickle cell trait.

Individuals with sickle cell disease have an abnormal heamoglobin, the protein that transports oxygen in the blood, which makes the red blood cells to become rigid, sticky and shaped like sickles. As a result, sufferers are anaemic, vulnerable to infections and experience episodes of pain known as sickle cell crises, while serious complications can involve stroke, organ damage and ultimately death.

Advances in treatment have lengthened lives and people with sickle cell anaemia can live into their 50s and beyond with proper care. “Even when two lovers with sickle cell trait marry, a sickle cell trait testing or neonatal screen can be done early to identify if their baby was a sickle cell carrier or has sickle cell anemia. When such babies are identified, several things can be done to ensure that they do not die early in life as a result of infections and complications of sickle cell anaemia,” said Dr Abdullateef Olopoenia, Oyo State health Commissioner at a stakeholder’s forum on the newborn sickle cell screening initiative.

Newborn sickle cell screening is a standard global health practice. The process entails screening infants shortly after birth for a list of disorders that are treatable, but difficult or impossible to detect clinically. It is a simple blood test that is used to identify many life-threatening genetic illnesses, including sickle cell disease, before their symptoms begin to show up. The test is used to detect sickle cell disease early so that appropriate treatment would be started early and the usual complications averted.

Newborn babies that are discovered to have sickle cell disease are placed on prophylactic treatment to ensure they do not die as a result of deadly diseases but live to adulthood. According to Dr Olopoenia, “we institute treatment very early by giving antibiotics and folic acid. This would prevent them from coming down with infections, including pneumococcal infection, a major cause of their death.”

By doing this, these children stay out of hospital; they achieve their academic potential; they don’t end up with the damage that sickle cells can do, and ultimately end up as less of a burden on their parents as they would be if they become chronically unwell.

“Of course, these children will be on this prophylactic treatment. But that is better than letting them die from infections and complications of sickle cell disease,” said Dr Olopoenia.

No doubt, the thinking was that people with sickle cell disease or trait are better not getting married to each other to ensure that over time, the pool of people with sickle cell disease dries up. But “on the other hand, doing this means that if you have two people passionately in love who have sickle cell disease or trait, such would not be allowed to marry. That is difficult. So what this programme does is to try to catch their children in case they have sickle cell disease early and treat them to ensure they do not die as a result of deadly diseases but live to adulthood,” declared Dr Olopoenia.

Ironically, people with sickle cell disease live the world over and it has not prevented them achieving their goals in life because through neonatal screening they are detected early and placed on appropriate treatment. “The policy that is being advocated for is that more countries screen babies for genetic diseases that are endemic in their country. For instance, sickle cell disease is endemic in Nigeria,” said Mr Jelili Ojodu, Director, Newborn Screening and Genetics, The Association of Public Health, United States of America.

According to Mr Ojodu, neonatal screening saves lives, whether it is as a result of sickle cell disease, goiter, hypothyroidism or other diseases that are genetically endemic in many countries.

“Screening babies early to ensure these diseases are detected early and treated appropriately in a bid to ensure a positive outcome in life has been a practice in USA for close to 50 years. Interestingly, the treatment for babies discovered to have sickle cell disease is not expensive and, in fact, it reduces the infant mortality and morbidity rates in countries where this programme had been instituted,” said Mr Ojodu.

“The outcome in babies with sickle cell disease placed on prophylaxis for the first five years of life is far better. It gives them a better life outcome at the end of the day — a reduction in number of sickle cell crisis; lesser number of swellings of the arms and incidence of infections; lesser hospital visits and so on.”

Individuals with sickle cell disease does not require any special diet, but Mr Ojodu said they are usually advised to drink plenty of water every day to prevent them from getting dehydrated as well as staying away from cold.

Unfortunately, Nigeria has the highest number of people with sickle cell disease in the whole world, with more deaths recorded in infancy said Dr Biobele Brown, a consultant pediatrician, University College Hospital, (UCH), Ibadan, Oyo State. “With a programme in place that ensures babies with sickle cell disease are detected early in life and treated, more of them will be able to live,” Dr Brown corroborated.

Certainly, neonatal screening and treatment are the ways to go in Nigeria since it might be impossible to stop people in love marrying and having children just because they have sickle cell trait. Little wonder, Dr Victoria Odesina, a mother of two grown-up children with sickle cell disease cannot stop talking about the need for mothers to get their babies screened early in life.

Dr Odesina has a 25-year old daughter and 27-year old daughter with sickle cell disease. Her 25-year old daughter is a master’s degree holder in clinical psychology while her sibling had a degree in pharmacy. “If my children with sickle cell disease can achieve all these in life, there is no reason any child in Nigeria should not be able to achieve what they want in life if sickle cell cases are detected early, tracked and treated,” declared Dr Odesina.

According to her, aside neonatal screening ensuring babies with genetic diseases such as sickle cell disease are discovered early, it ensures that other services such as genetic counseling for families as well as community education.

Paradoxically, neonatal screening remains the best option for Nigeria to reduce the burden of sickle cell disease considering that bone marrow transplant is out of reach of the common man with sickle cell treatment and prenatal diagnosis is available in very few centres in the country, despite its high cost, stated Professor Yinka Falusi, a genetic expert formerly at the Institute of Medical Research and Training, College of Medicine, University of Ibadan.

Comments (1)

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hi
written by Theophilus, December 30, 2011

I have been diagnose has a carrier what do i have to do?

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