‘It’s myth that people with sickle cell don’t live beyond 20’

its-myth-that-people-with-sickle-cell-dont-live-beyond-20
Dr Annette Akinsete

Dr Annette Akinsete, National Director/CEO, Sickle Cell Foundation Nigeria, debunks some of the myths surrounding the sickle cell disorder as well as improved treatment and options available for couple who found themselves stuck in relationships likely to produce an SS child.

 

The general belief is that people living with the sickle cell disorder don’t live beyond age 18 or early 20s. How true is this?

Well that’s one of the myths surrounding the sickle cell disorder that we try to debunk at every opportunity. We prefer to call it a disorder rather than disease because of issues of stigmatisation and discrimination. It is something you get from your father or mother; it’s not an infection; neither is it infectious. Some call it abiku or ogbanje, but it is not any of those. It is not caused by witchcraft; and it is not a death sentence. And it is not true that they die at the age of 16. Clearly it is not a stroll in the park disorder. Persons with the sickle cell have gone through so much. Some of them I know do not celebrate their 21st birthday, because they have been told they would die at the age of 21; so they keep repeating 20th. Imagine that kind of psyche. But it is not true. However, it is a condition that is fraught with a lot of health challenges and many of them go through what we call sickle cell crisis, which comes with a lot of pain, many times a year. Most of them would tell you that their pain is incomprehensible to those who have not experienced it. In fact, when you ask them to describe their pain on a ratio 1 to 10, they would tell you, ‘Doctor it is 20.” In other words, your scale does not even capture it. In fact, those who have gone through labour would tell you, ‘Doctor, labour pain is child’s play compared to the pain from the crisis.’

What’s the level of success in treating the disorder?

We are getting better and better in managing it. Now there are many treatment protocols that prevent crisis from occurring. I’m so glad Nigerian doctors are embracing the medicine we call hydroxyurea. It is a drug originally formulated for the treatment of cancer but later repurposed for treating sickle cell disorder. What it does is to prevent them from this bone pain crisis, such that someone who has 10 crisis in a year may end up having just one or none in many years. So it’s improving their quality of life and also improving their longevity. It simply raises the haemoglobin F, which is just as efficient as haemoglobin A that helps to carry oxygen around the body. The problem lies in the fact that the haemoglobin in people with sickle cell is designated haemoglobin S. That is why we say somebody is SS; and what it does to the red blood cell is that it changes the shape/form and function, so that it is not very efficient in carrying oxygen around the body. And when this is not achieved, the body reacts through pain in the carrier. It is the haemoglobin that keeps your red blood cell nicely shaped like a doughnut, very supple and easy to pass through your blood vessels; whereas  haemoglobin S which is like a sickle, banana or moon crescent shape, are not able to pass through tiny blood vessels easily, getting stuck, congregating and blocking the vessels. This is called vessels occlusion crisis..

Also, this kind of cell does not live long in the body. Whereas a normal red blood cell will live 120 days, the misshapen red blood cells live for just 10 to 20 days, the result of which is shortage of blood or anaemia. So those who have sickle cell tend to have shortage of blood or anaemia.

Aside hydroxyurea, patients can also take folic acid, which helps the blood cells to multiply rapidly and replace those that have broken down. They are also enjoined to eat very well and take enough water to prevent clogging of the vessels. So with proper management, they can prevent crisis and live longer.

What is the survival rate of people living with the condition? Can they live to be 70, 80, 90?

Definitely. The oldest person who lived with the sickle cell that we know here in Lagos, lived to age of 94. How many normal people live to that age? I’m not going to say that their lifespan is not less than that of the general population, but things have improved a lot. As a matter of fact, we now have the Champions’ Club where we have  persons with sickle cell who are 40 years old and above. As a matter of fact, we have people who are 70 in that club. So they are living longer. That’s one message I’d like to push out there – that there is hope; so that people living with this disorder do not continue to live in this constant fear of death. And as a matter of fact, we do have a cure now.

Yes, let’s talk about the cure.

The cure for sickle cell that we have now is known as Bone Marrow Transplantation (BMT). The general term is Stem Cell Transplantation. Stem cell is a kind of cell that can change to the kind of cell you want it to become. The ones that change into the red blood cells are called haematopoetic stem cells. That’s a big name for you to understand that these cells differentiated to become stem blood cells. And we get them from the bone marrow. Stem cells can be gotten from different sources, but the bone marrow source is the best source.  We usually take it from people with AA specifically. You can also get it from an AS person; so the worst the patient becomes is AS. So the patient who was SS becomes AA or AS.

How early can this be done in a patient?

I know that it is easier in children. In our own protocol, the Sickle Cell Foundation, Nigeria, has already established a Bone Marrow Transplantation Centre here in Lagos for Nigerians; and it is accessible to Nigerians. Before now anybody who wanted to go through the process travelled abroad to UK, to US, to India. Now we are playing it safe and treating only children  between 5 and 17. The reason is that the children are less likely to reject the graft, because they are not too entrenched in this terrestrial environment to see things as foreign, which can be fatal.

I’ve heard some people with the possibility of procreating SS children put up arguments like, ‘If we’re lucky to have a first child who is not SS, then we’d close shop. How realistic is this position?

The reason people put up that argument is because they’ve heard of the 1 in 4 chance theory. But what that means in reality is that in every pregnancy, there is one chance out of four that child would be an SS. In a real life situation, we have seen seven children born to carrier parents who are all SS. So it is in every pregnancy that hat probability plays out. The converse is also true. There is a family where both parents are carriers but their four children are AA. Not a single AS amongst them.

Is it true that we can now detect a foetus with the sickle cell from pregnancy?

That’s true. One of the things we offer in our centre is Genetic Counselling, where we counsel the couples on the different possibilities. But we are even more about engaging government to let Nigerians know their genotypes early. There is what we call Newborn Screening. Even in the UK and the US, where they don’t have as much cases as we do, every child that is born is screened for sickle cell; and where they miss this, they can do it at every other landmark opportunities, such as when resuming primary school, secondary, university or service year. So it’s not only when they are ready to walk down the aisle that they discover and now suffer heartbreak. We have also carried out surveys and found out that when genetic counselling is properly done, 80 percent of couples who find that they are not compatible go their separate ways. As for the other 20 percent, you still have to deal with them and let them know that there are other options. There is the pre-natal diagnoses. But some argue to what end is that? Do you want them to have abortion? The reason we carry out prenatal diagnosis is so that we can know early and carry the family along, so that as soon as the child is born; before he begins to show signs and symptoms, we begin to institute preventive treatments in terms of antibiotics; in terms of immunisations that deals with those infections that kill these children. 150,000 babies are born in Nigeria annually; but more than 100,000 of these children do not live to the age of five because of infections. The whole point of taking care of persons with sickle cell is to make sure we look after them from womb to tomb. The young man that won Big Brother Naija (BBN), Laycon (Lekan) is our ambassador at Sickle Cell Foundation, Nigeria. He has SC; it’s a different type of sickle cell; it’s not as severe as SS; but they need to check their eyes at least twice a year; because they can end up blind from nowhere. So being proactive is important.

Another option that young couples have is pre-implantation genetic diagnoses, where the sperm of the male and the egg of the female are taken and put together like in IVF in the laboratory; so that at the end of the day, you select the embryos that are free from the sickle cell and infuse it in the mother and she carries like normal pregnancy.

Some also choose the option of marrying for companionship and adopt children, rather than take chances and bring SS children into the world.

 

 

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