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Ene Abah: Understanding Genotypes

Ene Abah

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Ene AbahI have been asked a few questions about this subject recently. Some people I have spoken to do not see any reason why they should be bothered about their genotypes. Some can’t even wrap their heads around it. I am not a medical personnel but I will try to explain what I can, I will also provide links where I found useful information so you can do some research on the subject. Please correct me where I may write something that does not add up 🙂

I remember being taught in Biology in Senior Secondary School about the composition of genotypes, that stayed with me and this may be a little Biology lesson but it is worth reading.

First of all, genotypes are genetic make ups of cells. Some of the genotypes that exist to my knowledge around the part of the world where I am from are: AA, AS and SS…I have heard of the C hemoglobin but it is not very popular. Anyway, with the C, there are AC and SC (not sure how it works).

Now if we have two individuals with the following genotypes who choose to have children, the genotype composition of the children could turn out to be as follows but these things work in no particular order.

This is simply a high probability of likely genotypes. Charts would have been ideal for this illustration but in order not to cause any confusion, basically, take the alphabets one by one from each genotype and match alongside both of the other.

1) AA and AS
AA, AS, AA, AS

2) AA and SS
AS, AS, AS, AS

3) AS and SS
AS, SS, SS, SS

4) AS and AS
AA, AS, AS and SS

That’s the order, you could match others following this example.

However, I know of a family where both parents have the AS genotype and all their children except one out of five have SS as their genotypes. Only one happens to have the AS.

Another family with both parents as AS started with SS then the other two turned out to be AS and AA.

In all of this, the major thing to note is the Sickle Cell anaemia.

According to the U.S National Library of Medicine, “Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells that carries oxygen. The fragile, sickle-shaped cells deliver less oxygen to the body’s tissues. They can also get stuck more easily in small blood vessels, as well as break into pieces that can interrupt healthy blood flow. These problems decrease the amount of oxygen flowing to body tissues even more.”

The diagram below from the U.S National Health Institute website shows normal red blood cells and sickled red blood cells.
Sickle Cell Anemia

Now people who have the sickled red blood cells are those with the SS genotype while the AA genotype has normal red blood cells.

The AS genotype happens to have the sickle cell trait but the individual hardly suffers the effects from sickle cell anemia. If at all, very mild.

“Sickle cell disease is much more common in people of African and Mediterranean descent. It is also seen in people from South and Central America, the Caribbean, and the Middle East” – U.S National Library of Medicine. I recently learnt from a French friend that people in North of France and in Italy also have sickle cell anemia and he went on to give me some statistics.

I know of people who died of sickle cell anemia and I have watched a few of my friends in pain from it. I lost one last year. It was painful; very painful, because we all thought she had passed the age (there is a belief that when you go past a certain age, you are unlikely to die from the sickle cell anemia).

I lost another friend on Saturday, 07.11.2015.

We have more access to information today so it’s advisable for people to check. Adults are advised to find out what their genotypes are and that of whoever they may be dating, so that they do not have to suffer having to call off a  relationship when it would have got to an advanced stage where both people may want to get married.

I heard of a couple who chose not to have children as both parties have AS as their genotype. They willingly chose to adopt but how many people can be as courageous? Beyond love, reason also has to come in. Not many people handle having a sickle celled child very well + bringing a child into the world to know so much pain when it can be avoided, is that very considerate?

I hope you, reading this, have checked?

References

http://www.nhlbi.nih.gov/health/health-topics/topics/sca/

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0022028/

Ene Abah is an adventure lover, naturalista, food lover, travel lover, writer and is particular about sending positive vibes to others. Some of her interests are in writing, travelling, reading and generally enjoying life. Ene’s writing has been published in Top Chic magazine, Imbue magazine and on Imbue's website. She blogs at http://belletammy.blogspot.com.ng/ Follow her on Twitter @tammyabah and on instagram @belle.tammy

31 Comments

  1. tade

    November 26, 2015 at 11:30 pm

    Dis just brought tears again.I just lost my auntie dis morning due to the SS.She was 50yrs 2wks ago and we were so glad but I only wished had call her back.

    • Layo

      November 27, 2015 at 1:01 am

      So sorry to hear/ read that! My heart goes out to you and your family. God bless

    • Purplelabalaba

      November 27, 2015 at 2:49 am

      Oh wow. So sorry for your loss. I actually thought after a certain age, you can’t be affected too. Oh dear.

  2. boluji

    November 27, 2015 at 2:21 am

    think I learnt about this in class its a mutation I think in response to malaria as the shape of the cell doesn’t make it easy for the mosquito but its just unfortunate that though on one hand you cant get malaria it brings about other negative effects on the body, best advice know your genotype and educate yourself.

  3. Confused

    November 27, 2015 at 5:51 am

    I am AC,people seems to know less about this genotype.Im confused bcos I don’t even know the right genotype to marry.Do we have a doctor in the house?Can some1 please come to my rescue.

    • o

      November 27, 2015 at 12:14 pm

      I’m not a doctor, but I live with sickle cell disorder (SS) so I know a bit. The best genotype for you to marry would be AA, that way, you produce AA and AC kids. If however, you go for AS, you can produce AA, AC, AS and SC (which is a type of sickle cell disorder but less severe than SS). And if you go for SS, you can produce AS and SS. So the choice is yours. I am a supporter of making an informed decision. So read up about it, seek advise from medical personnel and make YOUR own decision

    • cleo

      November 27, 2015 at 12:20 pm

      I heard about the AC genotype when i was in NYSC camp in Oyo state during one of the lectures for the first time and i was awed. Very rare i heard too.

  4. Gerry

    November 27, 2015 at 6:28 am

    When my husband and I noticed we both were AS while dating it was heartbreaking because I lost my sister to SS just few days to her 18th birthday so you can imagine how devastated I was. We decided to go ahead and get married. I must say I prayed like …… Anyway, we had a son but we were to scared to go for the test till some years later when he had a respiratory infection and the pediatrician asked the almighty question, to cut the story short the test was done 3 times and the result was AA. It can only be God.

    • brown-ice

      November 27, 2015 at 12:13 pm

      Awwwwww God Bless you both! Wish I could love your comment a million times. A friend of mine would have been married to the love of her life if not that they’re both AS, the guy had faith, she didn’t. Really felt for her

    • dex

      December 1, 2015 at 12:32 pm

      Madam, I can imagine but ur husband are very lucky.

  5. Bae

    November 27, 2015 at 6:30 am

    Dated a guy who didn’t know his genotype and was non chalant about it. Drove me crazy. No longer together anymore

  6. Yrimu

    November 27, 2015 at 6:54 am

    I never knew anything about genotype until I went to Uni and met Nigerians. That being said, I have a friend who has sickle cell and the pain she goes through, it’s too much. Luckily she has 2 children who don’t have it ( as far as I know)

    Also as you mentioned, these diseases affect certain regions more than others. In East Africa were I am from, we have a high prevalence of cervical cancer.

  7. ThinkingOutLoud

    November 27, 2015 at 9:13 am

    I am more interested in the AC/SC combination especially the SC. Can someone please shed some light on those genotypes. Thanks

  8. deb

    November 27, 2015 at 10:00 am

    She dint mention AB. I’m AB. Anyways I still don’t understand the difference between blood group&genotype.

    • brown-ice

      November 27, 2015 at 12:18 pm

      AS, AA and SS are genotype. then AB, O+, O-, D+ etc are blood groups.

    • molarah

      November 27, 2015 at 1:04 pm

      Hi deb. She didn’t mention AB because AB is a blood group type, not a genotype. Blood groups are an immunological classification, based on presence or absence of antigens in an individual, while Genotypes (the word is actually not correct – genotype refers to a lot of things but in the typical context we discuss it in Nigerian health, it refers to blood cell shapes) are a genetic classification. However, both blood group and genotypes are hereditary i.e. they are passed from parent to children.

      The major blood groups are A, B, AB (or universal recipient) and O (or universal donor) while the major genotype classes (as already mentioned in the article) are AS, AA and SS.

      The health implications of blood group type center around blood transfusion procedures. If you are blood type A and you need blood transfusion, you can receive from people with blood groups A and O but not from the other groups; if you are B, you can receive from B and O but not others; AB can receive from A, B, AB and O (that’s why they are called universal recipients) while O can only receive from O, but can donate to all others (that’s why they are called universal donors). There is also another factor – the Rhesus factor, for which there are 2 groups: positive or negative, but that’s another topic altogether.

      The health implications of genotypes are, as the article suggests, around producing an offspring with the sickle cell disease (sicklers or SS as they are called). So it usually comes up during marriage counselling and stuff.

      Hope this helps.

  9. God's Mercy

    November 27, 2015 at 10:55 am

    BNers, Please its very important to know your genotype and that of your intended partner. Sickle cell anaemia is not a joke. I live with it and the pain is incomparable to any i have ever been through.
    Dont bring your kids to this world to suffer, the world is bad enough as it is

  10. Unekwu

    November 27, 2015 at 11:28 am

    Good write Ene, and thanks for sharing this.

  11. Kikelola

    November 27, 2015 at 11:36 am

    BN, I read many of the OpEds that are posted happily. Please leave the medical ones to qualified medical professionals.

    • 2xboo

      November 27, 2015 at 12:31 pm

      And if “qualified medical professionals” are yet to make a submission about this topic to BN, what’s wrong with someone who is passionate about it bringing it to light?
      Let’s appreciate people’s passion at the least if we can’t add to it.

  12. cleo

    November 27, 2015 at 12:26 pm

    I heard about the AC genotype when i was in NYSC camp in Oyo state during one of the lectures for the first time and i was awed. Very rare i heard too.

  13. Anonymous

    November 27, 2015 at 12:58 pm

    It’s amazing how people that know next to nothing about certain health matters feel the need to voice an opinion, educate and misinform other people about serious conditions that they do not understand fully. The author of this article has admitted to her ignorance on the subject and yet still feels the need to write an article on the subject matter, make recommendations and to drive home her point of view, she questions people’s motives for bringing children with sickle cell disease into the world. The fact that you have lost friends to sickle cell disease does not give you the authority to write an article on genotypes neither does it give you the right to advise others on Sickle Cell Anaemia. And BN, when next you feel the need to enlighten your audience about serious health matters, kindly enrol the services of a qualified medical practitioner who understands the subject matter so that people do not end up stigmatising the affected group. #StopSickleCellStigma

    • Asake

      November 27, 2015 at 6:19 pm

      Dear Anonymous,

      I am sure the author intention is not to stigmatize but to educate people on the challenges faced by people living with sicklecell, the pain their parents/relative/go through. I remember getting this same reaction when i wrote a similar post on Bella Naija(http://www.bellanaija.com/2014/03/06/asake-okin-whats-your-genotype-the-new-pick-up-line/) – , a friend called me up and racked that i enabled others judge people living with sickle cell- this is another educational post, do no ignore – Learn what you can learn.

      One of my favorite cousins ever battles with SC, trust me, if her parents had an option or knew anything about Genotype, they wont have made any decision that will put her through the crisis she usually face.

    • Chrisyinks

      November 27, 2015 at 6:32 pm

      Its equally amazing how someone hiding under the aegis of ‘Anonymous’ would spew or write so much negative criticism on a noble gesture of another individual. No single person (including experts, professional or a qualified medical practitioner as you suggested) knows the full breadth and depth of their area of expertise, hence information or opinions from others (including uninformed, uneducated and less informed author like the writer of this article) are welcomed and often go lengths for the general populace on understanding a particular health issue.

      You mention that the writer questions the motive of couples who have a possibility of birthing a sickle cell carrier yet you conveniently evade mentioning the question asked; is it considerate? – a question that is apt for such a discussion. You also use the hashtag ‘stopsicklecellstigma’ – how impulsive of you. where in the article did the author stigmatize these category of persons or encourage stigmatization of these set of persons?

      Now, I’d enlighten you on what the author has accomplished – she initiated a conversation about a discomforting, deadly and yet avoidable medical condition, she included relevant links for further research and enlightenment, over twenty comments have been recorded on this article (some provided added information; some added their personal experience; one refrained from having children due to the possibility of birthing a SS/SC carrier, another broke a relationship due to not knowing the partner’s genotype – how’s that for the question on being considerate; and of course there was your comment that …..

      My advice for you – try constructive criticism, it helps. For in more ways than one, we are all students.

  14. Puzzles

    November 27, 2015 at 4:17 pm

    People must always complain….

    The writer is not stigmatizing anybody but is raising awareness on a very serious issue that some people till today despite the higher level of literacy and exposure still ignore. She has said the best she knows and even referred to some sites. So you’re saying only medical personnel should raise awareness on issues like HIV/AIDS? Besides you’re doing a great disservice to persons with SS because you’re insinuating they wished people were going thru what they are going thru.

    You think it is a good thing to bring an innocent child to the world to suffer? People have lost family and friends because they were SS. I know a man (now old) who lost his 10 siblings because they were SS. He’s the only surviving one because he’s AS.

    I remember when I was young, I was in the hospital sharing a room with this beautiful young child. He was SS. According to the nurses and his mum he was in and out of the hospital every month. the only son of his parents, his mother a widow. The pain I observed him go thru is better imagined. I don’t wish it on anybody.

    I think it’s very selfish for two people who know they are AS to get married and proceed to have children who might become SS because they are “in love”, leaving things to chance or God. Bear in mind that Jesus himself said, “It is written: you must not put God to the test”. You think the love will continue to grow if they bear children with SS, have to care for one health crisis or the other or worse bury the children? Yes, some couples that are AS are fortunate to have kids that are not SS, but they are a minority. If a man and a woman are so in love and can’t marry someone else,, they should please adopt children and God will bless them.

    Someone once told me about a procedure (maybe IVF, I’m not sure) where a couple can check if the fetus is SS and then abort it, thereby treating innocent children as lab rats. Does that even make sense?

    • dex

      December 1, 2015 at 12:37 pm

      Hey dr, ivf is invitro fertilization (artificial insemination). Don’t worry we re all learning.”smiling”

  15. nunulicious

    November 27, 2015 at 9:18 pm

    for those who have children/kids with SS, you can do a bone marrow transplant. cost shit-load of money but it’s money worth spending if you’ve got it.

  16. Dunni

    November 27, 2015 at 11:36 pm

    My parents are both AS and never knew till when she was pregnant… we are three.. first 2 kids are AA… last child is AS. God works in mysterious ways.

  17. Anonymous

    November 28, 2015 at 3:43 pm

    Asake, I stumbled upon your article on pick-up lines when you wrote it in 2014. I liked the way you transcribed your conversation with the doctor and ironically, your article made me laugh. You see, what the author achieved in this case by asking her audience about the thoughtfulness of conceiving a child with sickle cell disorder (SCD) was steer people towards the disablist assumption that having a child with SCD is a bad thing. It is not! A well-trained medical practitioner and a genetic counsellor would not do that. It is simply not ethical. Estimates place the number of people living with SCD in Nigeria as 3,400,000. According to WHO and Sickle Cell Foundation Nigeria, about 150,000 Nigerians are born each year with sickle cell anaemia (HbSS). What the life of someone with SCD is like is not a given. If we are born into a society that is discriminatory and disablist then our life chances will be lessened. If we are born into a society where treatment is made available, where resources are dedicated to research, where discrimination and disablism are challenged, where we are given opportunities in schooling and in employment, then we would flourish because we’ve grown accustomed to living with this disorder since birth. In short, if people with SCD are not healthy and successful, it is a measure of failure of that society as much as the nature of the illness itself.
    By feeding into negative and discriminatory images of people with SCD (i.e. Death), the article reinforces prejudices against us as seen in the comments and by doing so contributes to damaging our self-esteem and health. Part of this self-esteem is to be reassured that people living with SCD can choose to date whoever they want to date, marry whoever they want to marry and have healthy children just like everyone in society. Yes, there are challenges in Nigeria, a lot of them but I am sure we as a people should be able to recognise that there is a very thin line between dispensing information and perpetuating the fallacy that SCD can be eliminated if only those with sickle cell traits search for those with HBAA to procreate with or to settle down with. What then should those with SCD do? The government should ask us to declare our status before getting married and stop such marriages if the likelihood of birthing a child with SCD is remotely observed? Or better still the government could put us in a queue and execute us for daring to consider bringing a child into this world and living normal lives? I laugh.
    My advice to future parents with either SCD or those who have the sickle cell trait is that they could make use of pre-implantation genetic diagnosis (PIGD) in which embryos are screened for SCD before being implanted, thereby ensuring that they do not have a child with SCD. However, to do so requires that resources within our society are allocated on the basis of need rather than merely on the basis of wealth. This in my opinion is progressive. Some people in the Sickle cell community do not even agree with me on this matter because of culture, religion, beliefs etc but as in every community we are individuals hence, we do not think in like manner. On a lighter note, if your cup of tea is Surrogacy, Adoption, all well and good. You might even choose to remain single. That should be your choice and should not be the choice of society for you. You may even decide to get married to a fellow SCD, love yourselves to Paris and back and choose not to have children. My good friends, life can be sweet without the wahala of children.
    So, as I said in my earlier post, please let’s Stop Sickle Cell Stigma.

  18. Damilola

    November 28, 2015 at 5:24 pm

    @anonymous

    You don’t have to be a medical practitioner to bring awareness and opinion about health/medical related issues. Human put their whole hope, trust in medical practitioners and their diagnosis and information is not always accurate. The author of this article is entitled to her opinion. And she’s not saying anything that’s so false.

  19. Grace

    February 28, 2016 at 7:48 pm

    Please i need advice on what to right now please before its to late, am a Genotype AA and blood group D+ and my boyfriend is Genotype AA and blood group O+ please tell me how far we can go with this. THANKS

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