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Saturday, August 13, 2011

What Is Your Genotype?

Different places different issues.

As a kid I was sick a lot (well allergies, cold, i guess i still get them but it was bad then) so I generally assumed i was AS (because based on my genetic makeup I was either AA or AS), no biggie life went on. Then in boarding school I found out I was AA and was quite shocked because I'd always assumed i was AS. Now in adulthood my mother has no idea where i pulled my results from, and i don't remember exactly where i got the epiphany that i was AA, so while in the hospital today I checked my file, and there was no genotype listed. SO.... I went to the lab & took the test. Ugh I had to get the injection in my wrist cause they couldn't find my vien  OUCH! it still hurts. Results will be in tomorrow, I'm going to the beach so I'll pick it up some other time, it's not that serious right now for me (but it's a serious issue).

yup I look like crap, not cause of the blood test but because i'm currently about to change into my pj's and sleep


So when someone here asks you "What's your genotype?" you might be puzzled and wonder if you're on a gameshow or if it's a science quiz. Funny enough most people that live in Nigeria, or West Africa are used to this question, and normally know the answer.

When people ask this, they are normally referring to your hemoglobin, (i know.... i see confused faces) basically they want to know if you have a sickle cell trait. Are you AA/AS/SS? This is a lecture from primary school that i definitely remember. (genotype could be whatever genetic makeup, but here these are the traits they are referring to)

What is Sickle Cell?

Sickle cell disease (also called sickle cell anemia) is an inherited blood disorder that affects red blood cells. The sickle cell gene causes the body to produce abnormal hemoglobin. In sickle cell disease, the hemoglobin clumps together, which causes red blood cells to become stiff and develop a C-shaped (“sickle”) form. These sickled red blood cells can block blood vessels, reducing blood flow in many parts of the body. This process results in tissue and organ damage.


I'll explain in a quick Legally Blonde way.
AA is normal and good
SS isn't good, it's sickle cell anemia. (has the sickle cell disease)
AS is a result of parents that are AA + AS or parents with AA + SS. get it? (does not have the disease but is a carrier)

So a lot of people who want to have kids (and single people who want to get married) take this highly into consideration. A high population of people here and have the AS hemoglobin , and it's very important to know because if an AS & AS get married chances for an SS child are 25%, AS child 50% and AA child 25%. The main thing to know is that Sickle Cell Disease is a red blood disease that can be prevented, and that's why people care and make it a big deal. (ps: it's not just an African problem "It is the most common genetic disease in the U.S. An estimated 70,000-80,000 Americans have sickle cell disease." - SSCDA)

So most people who are AS are advised to marry AA to be safe or not have children because of the risk of having an SS child. You can imagine how complicated it gets with dating and child bearing. People fall in love that are AS and have to make serious decisions.

ps: those with AS are more resistant to malaria, so they have an advantage.

- If you are born in the United States they normally test you as a child.
- I was born in England and i guess they didn't
- Times might have changed and maybe now it's normal for all babies globally to be tested, i have no clue, so if you're preggers i guess you might wanna ask your Dr.




As a kid i remember the lifespan for those that were SS was quite short, I just read here in the National Heart & Blood Institute that with treatment now some live up to their 40's, 50's or more which is great news.


For more info checkout NHLBI and here for Kids or WHO for some figures.
Again: What is Sickle Cell Disease? (this has the gory parts)

Sickle cell disease is a serious blood disorder that causes acute pain, severe anemia, infections, and vascular blockages that can lead to widespread organ damage and death. It is a genetic disease, the most common inherited blood disorder in the United States, where it occurs most often in African-Americans and Hispanics. Until the past few decades, most people with SCD did not live beyond young adulthood, but advances in treatment have improved and lengthened the lives of patients who have access to good medical care.


I admit if i happen to be AS I'll be a bit bummed since for almost a decade i thought I was AA, but oh well... life goes on. I'll just hope real hard that whoever I fall for happens to be AA. You know what I'll have to be proactive & nip it in the bud by asking the guy "What's your genotype?" definitely before, or on date No 5. at the latest.

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6.14 AM EDIT:

I just read ChicestGeek's comment (please read the comment section for more people accounts, and share yours)

*sigh* there's more. SS is one type of sickle cell disease, there's the possibility that also that someone could be AC and AD, just like you can be AS (A person with AC or AD still has 25% percent chance of having a sickle cell child C child or sickle cell D child )



Remember carrier's are advised to not mix. So if you are AS, AC, AD, or any trait that isn't AA be very careful and check your partner.

diagram to help:
what happens when an AC carrier & AS carrier mix: 25% chance of a child with Sickle Cell

18 comments:

  1. I really appreciate this post, most people do not have a clue what it is.
    My brother suffers from sickle cell and it has been a reality for my family for 20 years, at first i didn't understand why my younger brother got all of the attention. After his first crisis I came to a quick understanding.

    My mother made sure I knew my genotype at an early age because I'm a carrier (AS). I honestly do not care how great of a relationship I am in, if my partner is also a carrier its a done deal. I see what my brother goes through especially now that he is older and understands the reality of this disease and it honestly breaks my heart.

    thank you so much for shedding light on this.

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  2. @ Michelle:
    thanks so much for your comment, it really means a lot to read about your experience, it definitely makes it more real. I'm really sorry about your brother (hugs).

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  3. It was good to read this because my son has sickle cell & a lot of people are unaware of how the disease is inherited. I will add though there are actually more than just AA/AS/and SS. Im actually AC, which resulted in my son having SC or hemoglobin SC disease. I did a blog entry on it.

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  4. @ChicestGeek

    Thanks so much for the information. I wasnt aware, I also read about theHemoglobin D Trait and Beta Thalassemia Trait . I've edited the post to talk a bit about them. I really wish the best for your son, thanks for sharing your experience.

    Her Blogpost on her experience

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  5. This is REALLY good information! Different ethnic groups have different risk profiles for different diseases, so it's always good to know what your genetic pre-disposition is!

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  6. I don't have a clue what mine is. And at this point, I don't care seeing as I'm fine at age 43 and all my children are adopted. Now regarding them, I think I might need to do some investigation. m.

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  7. Great post, quite informative and easy to understand especially for people who may have never come across Sickle Cell before.

    I have SS and I find it quite annoying that some people within the Afro-Caribbean community are still not clued up about Sicke Cell/Thalessmia. It is always best to get tested to know if you are a carrier i.e. AS, especially when it comes to conceiving.

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  8. Awesome post, its very educative and also exposes everyone on how to be pro-active on such issues. I know I'll definitely be asking guys what their genotype is, since I'm AS

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  9. This is great post 'Chell, and reading the comments brings it home further. I am AA so I was lucky in that sense, but I also had to know my partner's Genotype for the other classes.

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  10. I'm so happy to see you post on this. Word needs to get out. My mate was buried today, at 25. She had sickle cell. I lost my cousin last five years when she was but 15 years old. As my dad said and you re-iterated. it should be a question tackled on the first few dates before cupids arrow sinks any deeper.

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  11. So scientific!!! I had a friend with sickle cell
    :( Key word HAD *tear*
    XoXO

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  12. Being that both my grand parents were both AS and lost 3 kids in their twenties due to sickle cell, i dig this post.

    One thing i learnt tho, people with AS are malaria resistance, so if you've never actually had malaria chacnes are you are AS (or just never lived in nigeria, lol).

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  13. its actually a black think
    very very very few percentage of Caucasians have sickle cell traits
    thumbs up on this post
    i am AS and right now its one of the first questions i ask guys

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  14. Wow to be honest I've never considered this. Thank you for writing such a great health post. x

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  15. This is a really serious thing to consider, having known and seen grown SS people die. One as recent as two weeks ago, he was married and his wife had just delivered. The crisis associated with it is usually very serious and financially draining on less buoyant parents. I am AA but I still ask!

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  16. A family friend of mine has folks that were AS/AS. They got lucky and stopped at three kids cos they were all AS. She "lost" the fourth child she was carrying at the risk that it may have been SS.

    I think my whole family is AA. I get sick once a year if at all. I haven't had as much as a fever this year. Threw up one night but that was a hangover so it doesn't count lol.

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  17. thanks for such an informative post!!

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  18. VERY VERY INFORMATIVE! I can honestly I was unaware of all of this. Thank you for the heads up, much needed.

    Kimberly

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