Effects of wrong genotype results
Azubuike Charles, a middle-aged business owner, and father-of-3 lost his 4-year-old son to sickle cell disease in 2016.
He said his pre-marital test indicated that his genotype was AA, only to discover later it’s AS after marriage to his heartthrob.
Charles stated that managing sickle cell could be expensive, adding that he didn’t regret having his late son. He said,
“My wife and I are both AS genotype. Earlier, I ran a test and the laboratory technician gave me an AA result only for me to check after marriage and it’s AS.
Although I have other children after him, I loved him. He was intelligent, smart and a happy child. I still feel his absence daily.’’
Charles who became emotional during an interview with PUNCH said he had yet to think of ways to spread the message of sickle cell disease and the need to be sure about one’s genotype before marriage. He added,
“Managing a child with sickle cell disorder is expensive. Blood transfusions and medication including quail eggs etc monthly costs N30,000 on the average.
Sickle cell disease is expensive to take care of but the challenge is only when he had a crisis which was not regular if he had his drugs. Unfortunately, he died in 2016 at the age four. I don’t regret going through that phase of my life.”
Dare Akinya is the father of a sickle cell warrior. He claimed he was sure about his genotype but was not sure about that of his wife until they were married.
According to Akinya, life has not been easy taking care of his child who is a sickle cell warrior but has been made simple with his wife’s deep knowledge in science. He said,
“Yes, I know my genotype to be AS but we weren’t sure about hers. I was still uncertain about her mother’s genotype at first, my wife guessed her genotype to be AA whereas it’s AS.
As for my daughter, we don’t get to spend weekly or monthly, she only comes up with crises such as body pains and malaria-like sickness once in three or four months. God has really been helping us. The only difference I think we have is that she has a mother who is into medical line. She knows what to do if anything comes up with her.”
For Tiamiyu Babalola who is a father of a sickle cell warrior, he was also sure of his own genotype as AS but was misled by his wife’s wrong genotype result which came out as AA. Babalola added,
“We both did our genotype screening before marriage but the error was from the private laboratory we visited then. What I concluded later was that the laboratory workers were not capable. They misled us.
In our case, the matter entered our ‘deep love relationship’ despite the fact that we did premarital genotype screening. My wife was given the wrong result of “AA” as against her true genotype status of ‘AS.’ Then I had confirmed myself as being ‘AS’ from the beginning. That’s how the mistake came about.”
He further said he would have separated from his wife if the genotype of their first child was AS, noting that it was after another conception that indicated the child’s genotype turned out to be SS. He stated,
“If the sickler child was our first issue, one could have opted for separation, but it’s not. It’s not the first child so you don’t have to separate. The best option is to stop child bearing. He can fall sick two thrice monthly.
I prepare at least one quarter of my savings or contribution to take care of my children. As for my daughter, we don’t get to spend money weekly or monthly, she only has body pains and malaria-like sickness thrice or four times in a month.”
Babalola who is a cloth designer said he has four children out of which two are sickle cell warriors with the male aged 14 and the female 15. He said,
“We have tried many options for the management and treatment of the boy. In fact, you can use anything during their crises or pains. I have used local herbs for him and at a time, I bought an herbal formulation which works perfectly well but sustainability is the challenge.
It’s costly. During this period, he was sick because of an examination. Night reading was responsible for his sickness. He doesn’t have the ability for that. We love our kids.’’
Like Akinya, Babalola’s wife is also into the medical line and according to him, “she gets to know what to do if anything comes up with our kids who are sickle cell warriors.’’
In view of the prevalence of sickle cell diseases in Nigeria and the attendant challenges, Nigeria ranks the largest with the burden of sickle cell anemia worldwide with about 150,000 babies affected annually. Children born with sickle cell disease will have ‘SS’ as their genotype.
Challenges of sickle cell disease
Biologically, experts note that sickle cell disease is an inherited chronic hematological disorder, where a point mutation in the β globin gene results in the substitution of glutamic acid with valine at position 6 of the peptide. In essence, it is a genetic condition that is present at birth and it’s inherited when a child receives two sickle cell genes – one from each parent.
Various types exist. However the most common in this part are HbSS, HbSC, and HbCC. Sickle cell disease is a serious public health concern, present mainly in tropical countries, especially sub-Saharan Africa
Sadly, many persons still don’t know their genotype status (e.g SS, AS, AA, CC, AC) thereby making them make wrong marital decisions. Sickle cell disease can be avoided with the right education about it at the early stages of life.
Warriors on survival journeys
Fadeelat Adeyemi is an intern pharmacist living with sickle cell disease.
According to the 26-year-old, her family discovered she has sickle cell disease at a tender age. She noted that she had at several times been denied her hobbies but managed to pull herself together to tread the path of success. She said,
“It was in the hospital, through a test over a year, that it was detected. It has not only denied me mostly hobbies and adventures but also delayed my goals.”
Adeyemi explained that she drew strength by helping people discover their purpose in life. He stated, “I impact my world by inspiring others and creating awareness to society as it relates to sickle cell. I don’t dwell on regrets.”
Also, 29-year-old Adelabu Akeem is a graduate of Accounting from the Federal Polytechnic, Ede, Osun State. He noted that being a sickle cell warrior had affected his aspirations and reduced his thirst for success.
Akeem said life had been challenging to him, adding that it was difficult as a warrior to secure a job. He said,
“It was since childhood that my parents realised that I was a sickler. Being a warrior has stopped me from achieving my goals of becoming who I want to be. It has hindered my ability to impact my world.”
He added that being a warrior required frequent medical support and money. He stated,
“As a person, I have a low self-esteem about certain things in life due to my consistent in and out of hospital. I am not on medication most times even during crises. I rely on local herbs and relatives to cope. I don’t have adequate financial capability but God has been awesome. I don’t have any business or means of livelihood at the moment.”
The ugly reality
A laboratory scientist, Ayodeji Faremi, working with the Government District Hospital, Ede, Osun State, blamed the involvement of quacks for invalid laboratory results. Faremi said,
“The most worrisome findings in our practice in medical laboratories is that many non-laboratorians in clinical practice trivialise the technicality of haemoglobin genotype testing and therefore carry it out by themselves or entrust unlicensed individuals to do the same for them. The outcome is that many carriers are given haemoglobin genotype “AA” results and marry their partners on assumption that there will not be problems.
“When their children have issues and are found to be sickle cell disease patients, retesting of the parents will then reveal that the couples are carriers. How do we move forward from there?
“Anaemia is a common complication of sickle cell disease. With sickle cell disease, the red blood cells die early. This means there are not enough healthy red blood cells to carry oxygen throughout the body and this often leads to other serious complications. This category of people needs a safe and adequate blood supply free from transfusion transmissible infections such as hepatitis, HIV, syphilis etc.’’
He stated further that findings indicated that transfusion transmissible and infections were rising among sickle cell patients due to frequent blood transfusions. The laboratory scientists said,
“Some blood products are not well screened due to either quackery or shortage of necessary equipment to screen blood donated products.
“Many of the victims turn to natural remedies due to accessibility factors and cost implications to augment facilities for testing and therapy. In some cases they relied on natural supplements for the management of their health. Oftentimes, this results in complications of other organs of the body due to toxicity and purification of most supplements.”
Based on a questionnaire sampling by Faremi on sickle cell knowledge in Osogbo and Ede areas among junior secondary school pupils, many of the respondents were aware of sickle cell disease, knew that it’s an inherited disease, and familiar with some persons having the disease.
350 pupils were selected but only 342 consented to participate in the study, giving it a response rate of 97.7 percent.
Responding to knowledge on preventive measures, only 66 percent (226) agreed that genetic education and counseling were ways to curb future cases. Forty-two percent of the total respondents believed knowing one’s genotype was key to forestalling any marital issue and out of this, only 19 percent (27.3) knew their genotype statuses.
In response to a question on the importance of genotype before marriage, only 20 percent of the respondents’ parents did their genotype before marriage and half of the respondents were counseled by a religious counselor or health educationist. The respondents were told to ask their parents.
Faremi said awareness seemed to be on the high side, adding that knowledge on preventive methods or causes was low.
He stated that more licensed testing platforms with the provision of qualified professionals or medical personnel were needed.
Solutions to wrong laboratory testing — Experts
A Consultant Haematologist at the Federal Teaching Hospital, Gombe State, Dr. Kasim Pindiga, said that sickle cell was essentially about hemoglobin. He said,
“Genes occur in two pairs. If one of them is abnormal, you can have many abnormalities of haemoglobin gene. Sickle cell disease is all about haemoglobin. Haemoglobin is a protein that carries oxygen into the red blood cell and transports it from the lungs to the various parts of the body. If the haemoglobin is defective, there will be many abnormalities.
“Sickle cell disease is a disease from the inheritance of the abnormal haemoglobin which is called sickle haemoglobin and another abnormal haemoglobin. So, the abnormal haemoglobin is designated as S and the other pair too is abnormal.
It can also be S which is also abnormal or another abnormal haemoglobin not necessarily S and S so you have both the pairs of haemoglobin defective. This is just an overview of what sickle cell disease is and there are different types of sickle cell disease. The bottom line is you have one as sickle cell haemoglobin and another one also being abnormal, so both the pairs are abnormal.”
Pindiga said problems arising from a laboratory test for genotype results could be from three areas namely; pre and post-analytical and analytical test errors. He said,
“I have heard many instances, right from where I trained that one can have such cases. Someone came to our clinic recently to say he was diagnosed with sickle cell entity AS trait in another hospital, in another state. He returned to the clinic and his genotype was confirmed AA. We repeated it after he came to me for my opinion and we discovered the same thing.
“My opinion on errors during laboratory tests can result from three categories. There is what we call pre and post analytical test errors. Pre-analytic test means errors that are done before performing the test in the laboratory.
The clerical errors mean any laboratory will have a register that any sample for any type of test from the laboratory should be registered with the individual’s name, age and other information regarding that patient as well as his blood sample. A laboratory number is supposed to be a unique number given only to such a sample. This means no other sample will be given that number and this is to avoid errors called clerical errors.’’
The medical practitioner noted that there might be lapses in some laboratories and errors could occur from sorting out samples. He stated,
“Maybe an individual comes to a facility and his sample was taken and another individual came after the first individual A and his sample was also taken.
“Sometimes somebody can collect two or three or even more samples before registering them. Now, in trying to register sample A, you put the individual’s information on the laboratory sheet in the reception, give it the name of that individual and everything and you give it a number.
In trying to write the number on the bottle, you write it on the second bottle. This means the swapping of numbers. This is an example of error that can occur in the laboratory which will affect the final results of whatever somebody is testing for and many of type of clerical errors can occur even before the test is performed.’’
Faremi advised the government to put plans in place towards ensuring that unregistered personnel was regulated to provide verifiable results. He said,
“All hands must be on deck to fight quackery and health professionals should stop playing politics with this in Nigeria. Also, special attention should be given to genetic education. More resources and best global practices are needed to reduce the rate of transmissible transfusion reaction among sickle cell patients.”
On his part, the consultant haematologist called on relevant agencies to put adequate plans in place to avert the damages caused by wrong results, adding that every day there were requests for genotype not only for premarital check-up but for medical reasons. He said,
“There are rules and order but these are lacking. You may get into a reception, a room where a sample is being taken and you find it overcrowded. I think obeying rules and order is one of the factors that may contain the problem. Another one is that the person performing the sample collection and registering the sample should be trained.
As we know, every profession has its own kind of updates, so there is what we call training and retaining. Workers in the hospital are supposed to receive training from time to time on how to best perform their work accurately and the way it should be done.
Sometimes, lack of these updates; training and retaining may be a factor. Somebody has been working for more than 10 years in the same room. He has not been taken to another place. He has become used to that place and some of the things are right to him because he is used to the system.
He has not gone for any course that will update his knowledge or even remind him that some of the factors are not actually right. So, lack of training and retaining may be another factor.’’
He urged people to only patronize standard hospitals having rules and regulations and filled with experts. Pindiga added,
“It should not just be any hospital that is just by the road side. Some centres cannot even perform the test. They will just write the result and collect your money.”