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Sickle Cell Disease: The burden, challenges and ordeals of parents who were wrongly diagnosed

Chima Azubuike FASLN

Sunday, 10 January 2021

Azubuike Charles, a middle-aged business owner, and a father of three children, said he lost his four-year-old son to Sickle Cell Disease (SCD) in 2016. He said his pre-marital test certified his genotype as AA, only to discover later it is AS after marriage to his heartthrob.

Charles agrees that managing SCD can be expensive, but revealed that he has no regret having his deceased son.

According to him, "my wife and I are both AS genotypes. Earlier, I ran a test, and the laboratory personnel 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 a very intelligent, smart and happy child. I still feel his absence daily, am emotional now."

Charles, who became emotional in the cause of the interview, said he is yet to think out the means to spread the message of SCD and the need to be sure about your genotype before marriage.

He added, "managing a Sickle Cell Disease child is very expensive, blood transfusions and medication; as well as Quail eggs etc. monthly costs N30,000 on the average. SCD is very expensive to take care of, but the challenge is only when he had his crisis which was not regular if he had his drugs. Unfortunately, he died in 2016 at the age of 4 years. I don't regret going through that phase of my life."

Effects of wrong genotype results

Oladare Akinyawale, is a father of a Sickle Cell warrior, although he knew about his genotype but was not sure of that of his wife until they were married.

According to Akinyawale, life has not been easy taking care of his child, who is an SCD warrior but has been made simple with his wife's deep knowledge of science.

He claimed he was sure about his genotype but was not sure about that of his wife until they were married.

He said, "Yes, I know mine to be AS, but we weren't sure about her mother's. I was still uncertain about her mother's genotype. At first, my wife was guessing 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 body pains and malaria-like sickness once in 3/4 months. Not at all, God has really been helping us.

"The only difference I think we have here is the fact that she's got a mother that's into medicals, so she knows what to do if anything comes up with her."

Tiramiyu Babalola is a father of an SCD carrier. Babalola said he was convinced about his genotype as being AS but was wrongly guided by his wife's result which came out as AA.

"We both did our genotype screening before marriage, but the error was from the private laboratory we visited then. What I concluded here is the laboratory staff wasn't a capable person. They misled us.

"In our case, it entered through our 'deep love relationship' though we did pre-marital genotype screening. My wife was given wrong results of "AA" as against her true genotype status of "AS". Then I had confirmed myself as being “AS" from scratch. That's how the mistake came about," he said.

He added that he would have separated from his wife if the genotype of the first child was confirmed as AS, noting that it was the later conception that was a carrier.

"If the sickler child was our first issue, one could have opted for separation, but it's not. If it's not the first issue and you can't separate, the best option is to stop bearing children.

"He can fall sick at any time. I prepared at least one quarter of my savings or contribution on ground to take care of my children. He can fall into crises two or three times in a month. "As for my daughter, we don't get to spend weekly or monthly, she only comes up with her body pains and malaria-like sickness once in 3-4 months," he said.

Babalola, a fashion designer, said he has four children out of which two are SCD warriors, whose age range between 14 years for the male and 15 years for the female.

According to him, "We have tried so many options for his management and treatment.  In fact, you can use anything in times of their crises or pains. I have used local herbs for him and at the time I bought a Saudi herbal formulation which works perfectly well, but sustainability is the challenge, it is costly.

"During this period, he was very sick because of exam and night reading caused him to be sick; he doesn't have the ability for that. "The only difference I think we have here is the fact that she's got a mother that's into medicals, so she knows what to do if anything comes up with her."

In view of the prevalence of SCD in Nigeria, and the associated mortality, Nigeria ranks the largest with the burden of sickle cell anaemia worldwide with about 150,000 affected babies annually. Children born into SCD will have 'SS' as their genotype inheritance.

What Causes Sickle Cell Disease (SCD)

Biologically, SCD is an inherited chronic blood disorder that results from a mutation in the β globin gene that makes haemoglobin, which responsible for carrying oxygen in red blood cells. 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 these environs are "HbSS and other haemoglobinopathies which are HbCC and HbSC, HbDD.

SCD is a serious public health concern, present mainly in tropical countries, especially sub-Saharan Africa.

It is very pathetic in this technology age because many young people still don't know their genotype status (e.g., SS, AS, AA, CC, AC, CC). This makes them take the wrong decisions as far as marital life is concerned. SCD could be avoided if right education is made available, and decisions were made at the early stages of life.

Warriors on the move to survival:

26 years old, Fadeelat Adeyemi, is an intern Pharmacist. She is living with SCD. According to Adeyemi, her family discovered she had SCD at a tender age. She noted that she has at several times been denied of her hobbies and desires but has managed to pull her path to success.

She said, "It was in the hospital, through a test at the age of 1½ years that it was detected. "It has denied me mostly hobbies and adventures, but only delayed goals."

Adeyemi explained that she draws strength by helping people discover their purpose in life. "I impact my world by inspiring others and creating awareness to society as it relates to SCD. I don't dwell in regrets," Adeyemi added.

29 years old, Adelabu Akeem, a graduate of Accounting, Federal Polytechnic, Ede in Osun state, said being an SCD warrior has affected his aspiration and reduced his thirst for success. According to Akeem, life has been challenging, and he noted how difficult it has been to get a job.

He said, "it was since my childhood that my parents realised that I was a Sickler. Being a warrior has denied me from achieving my goals of becoming who I want to be. It has hindered my ability to impact the world."

He added that being a warrior requires frequent medical support, which in turn needs resources. "Yes, as a person, I have low self-esteem about certain things in life due to my consistent fall in and out of bed.

"I am not on medication most times, even during crises. I relied on local herbs and relatives to cope. I don't have the adequate financial capability, but God has been awesome. I don't have any business or means of livelihood at the moment," he said.

Meditating on Beach
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Red blood cells

The ugly reality

A Fellow of the African Science Literacy Network (ASLN), Ayodeji Faremi, a Medical Laboratory Scientist and trained biomedical scientist with the Government District Hospital, Ede, Osun State, blamed quack involvement in the practice as the reason for invalid laboratory results.

According to him, "The most worrisome finding 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 same for them. The outcome is that many carriers are given haemoglobin genotype "AA" results and marry their partners on the assumption that there will not be a problem. When their children have issues and are found to be SCD patients, retesting of the parents will then reveal that the couple are carriers. How do we move forward from there?"

“Anaemia is a very common complication of SCD. In this disease, the red blood cells die early. This means there are not enough healthy red blood cells to carry oxygen throughout the body, which often leads to other serious complications. This category of people needs a safe and adequate blood supply free from transfusion transmissible infections (TTI) like Hepatitis, HIV, Syphilis etc.

"Findings have indicated that TTI is rising among sickle cell patients due to frequent blood transfusions. Some blood products are not well screened due to either quackery or shortage of necessary equipment to screen blood donated products. "Majority of the victims resolve to natural remedies due to accessibility factors and cost implications to augment facilities for testing and therapy. In some cases, they rely on natural supplements for the management of their health. Often, this results in complications of other organs of the body due to toxicity and purification of most supplements."

Knowledge base on sickle cell disease

Based on a research carried out by Faremi through questionnaire sampling in Osogbo and Ede metropolises amongst secondary school students to underscore their awareness about Sickle Cell Disease, and haemoglobin genotypes among them.

Faremi focused on senior secondary school students between class 1 to 3. Multi-stage random sampling was used to select those students (350 students) that were selected. However, only 342 students consented to participate in the study, giving it a response rate of 97.7 %.

Majority of the respondents were aware of SCD; they knew that it's an inherited disease and knew someone having the diseases. However, less than half of the respondents (9.4%) were familiar with signs and symptoms to recognise a carrier.

When the respondents were asked about the chances of each child carrying sickle cell disease, especially when both of the parents have sickle cell trait, only 25% knew correctly that the chances are 50%.

In response to knowledge of preventive measures, only 66% agree that genetic education and counselling can curb future victims. Meanwhile, the highest source of information on sickle cell diseases includes health information (via practitioners or past advocacy) and families and friends.

In terms of attitudinal social behaviour towards the disease, 42% of the total respondents believe knowing one's genotype is key to forestall any marital pit and out of this only 19% knew their genotype status, with 62% for 'AA', 34% for sickle cell traits ('AS', 'SC') and 4% for 'SS'.

In response to questions on the importance of genotype before marriage, respondents were told to ask their parents if pre genotype screening was done before they married. Only 20% of the parents of the respondents did their genotype before marriage, and half of this population were counselled by a religious counsellor or health educationist.

In total, 96% of the respondents agreed that they would like to know their genotype status and have it reconfirmed again if they had done it before. Due to socio-cultural beliefs, the remaining 4% didn't buy the idea of pre-marital genotype screening. However, this category of respondents are not members of the two dominating religious group in Nigeria.

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.

Quest to get genotype diagnosis grows daily- Expert

Speaking on testing for the sickle cell trait, Consultant Haematologist, Federal Teaching Hospital, Gombe Dr. Kasim Muhammad Pindiga, said; "in my opinion, errors on laboratory tests can result from 3 different categories. There is what we call pre-analytic test error; there are analytic test error and post-analytic test errors. The error can occur from each of these categories.

"Pre-analytic test error means errors that are done before performing the test in the laboratory. These are errors called clerical errors, meaning that the errors arise from the laboratory register which has an individual's name, age and other information regarding that patient as well as his blood etc.

"Sometimes somebody can collect two or three or even more samples before trying to register 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 give it a number. In trying to write this number on the bottle, you write it on a second bottle, which means swapping the numbers. This is an example of an error that can occur in the laboratory which will affect the final results of whatever somebody is testing for. So many of these types of clerical errors can occur even before somebody performs the test."

Way Out:

Faremi suggested the need for government to ensure that unregistered personnel are flushed out of the system, and the country laboratory systems are well regulated for providing a verifiable result.

"All hands must be on deck to fight quackery and health professionals should stop playing politics with this”

"Special attention to genetic education should be a priority, especially at a very tender age. "More resources and best global practices are needed to reduce the rate of transfusion transmissible infections among SCD patients," he said.

Dr Pindiga called on relevant agencies to put an adequate plan in motion to avert the damages caused by wrong results. Every day, there are requests for genotype, some of which are for pre-marital check-up and medical reasons.

He said, "there is lack the role and order. You may get into a room where a sample is being taken, and you find it overcrowded. The person registering the sample may become confused at times due to this.

"Staff in the hospital are supposed to receive training from time to time on how best to perform their work accurately and the way it should be done. Sometimes lack of training and retraining may be a factor to these problems.”

"People should go to standard hospitals that have rules and regulations and have the necessary expertise. Those who don’t have the expertise may just write a wrong test result just for the sake of getting paid for the service."

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