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napa (f)
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please is there any thing like genotype AC
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fsb (m)
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To understand what AC is, I believe it'll be best you understand what the normal is?
The story goes,
What you have following in your blood are cells, the most predominant of which are called RED BLOOD CELLS (RBCs). These cells contain within them HEMOGLOBIN, a substance without which the RBCs are invariably useless. This hemoglobin itself is composed of 2 parts: a heme (don't bother yourself, this basically is a complex Iron-protein complex) and globin (2 pairs of protein chains, this is the important part).
There are 2 alpha and 2 beta globin chains - the pair, and there is a normal way the chains are supposed to be structured. The error happens when a protein substitution occurs in any one of these chains - but particularly in the globin chains (First of all, you have to understand that amino acids are the building blocks of proteins - so if amino acid 'x' is the normal, an abnormality occurs when instead of 'x' at a particular location along the chain, you have 'y'.)
That is as simple as it gets. These errors of substitution are given the big name of 'THALASSAEMIAS'. In reality, a substitution will occur at any point along either the alpha or beta chains but for the purposes of simplicity and to answer your question, we focus on the genotypes AS, SS, AC.
Genotype AA: At position 6 of both globin chains,the amino acid is GLUTAMATE
Genotype AS: At position 6 of one globin chain is GLUTAMATE and at position 6 of the second globin chain, you have VALINE
Genotype SS: At position 6 of both globin chains, the amino acid is VALINE
Genotype AC: At position 6 of one globin chain is GLUTAMATE and at position 6 of the second globin chain, you have LYSINE
I hope you can appreciate the above. This little substitutions can cause significant differences in the quality of life that you experience with a genotype.
I'll post this and continue with HOW DO PEOPLE GET THEIR GENOTYPES!!!
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fsb (m)
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How do people get their genotypes?
Simple, from your biological parents.
If papa bomboy has a genotype AA and mama bomboy has a genotype AS, which genotype do their children have? What we do in theory is this, you cross each of those letters so that you have AA, AS, AA, AS? Therefore, for each pregnancy and each bomboy they delivery has a 50:50 probability of being AA or AS.
What if their genotypes were AA (for papa bomboy) and SS (for mama bomboy); you do the crossing again: AS, AS, AS, AS. Therefore, it is very UNLIKELY that any of their children will have a genotype outside of AS.
You will see that I have used the word unlikely because SHIT happens. They might end up having a child who is either completely AA or SS but whatever happens, a child's genotype is never outside of the parents. Eg. a man and woman who are both AA can never have children with genotype starting or ending with 'S'. If it happens, talk to your landlord (just kiddin').
So for you to get AC, you must have a parent who carries a 'C' in his or her genotype. I hope that answers your question?
One more thing: Are there any clinical features of Hemoglobin C like Hemoglobin S?
In the case that you're AC, well the good news is that MOST TIMES THERE ARE NO SYMPTOMS, but occasionally, there is JAUNDICE.
THE BEST PART IS THAT YOU CAN LIVE A NORMAL LIFE WITH AC!!!
Hope that has helped!!!
, fsb
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fsb (m)
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And just for the case of mentioning genotypes, you could have:
Regular Genotype: AA (healthy as healthy can be)
Traits: AC, AD, AF, AG, A+FAST, AE and AS (not associated with any clinical signs, symptoms or syndromes - they as relatively as healthy as AA)
Genotypes associated with clinical features: SS, SC, CC (are associated with clinical signs, symptoms and syndromes)
Please note that the marriage thing is this, I really don't know what the recent trend is but the important thing is to make sure your genotype of you and your partner don't match up in a way as to produce an children with SS, SC and CC. These children only suffer for nothing!
I hope my post was useful to somebody out there!!!
, fsb
PS: Please note that the list of genotypes above isn't in any way exhaustive. Those are the most common I've mentioned, there are several others.
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ifyalways (f)
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a million thanks to you fsb.  |
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fsb (m)
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a million thanks to you fsb. , your welcome |
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naijaking1
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Good job Oga FSB, you make A+.
Weintraub(author, textbook of hematology) will be very proud of you.
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fsb (m)
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Thanks naijaking1,
Your a doctor? What's your specialty?
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Emmion (m)
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@ FSB,
thanks a great deal for the information. I have been looking for someone like you to help out. There is this lady i have been seeing for a while. I love her so much and marriage ASAP is already in my plans but there is the problem of genotype. This breaks my heart so much. I have gone for genotype test 3 times. First one i was given AC. Second was AA. Wanting to be doubly (or triple sure), i went for a third test and it turned out to be AC. Now my girlfriend also is AC. For me thats a problem. My parents are both AA. My elder brother is AA. So where did i get the AC from? I am confused. I love this girl but dont want pains for her and myself later when we start having children.
Please, i desperately need immediate advice. Any other Doctor in the house pls help.
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skillmyman (m)
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my wife and I found out we are both AC before we got married 8 yrs ago. i did some research on the internet about this and found out that it was not really a fatal condition except that your kids have chances of being a CC. CC has aneamic condition and are allergic to a lot of stuffs.
We have two kids now, the eldest is AC while the younger is not old enough for us to check his genotype.
cheers
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Emmion (m)
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@ Skillmyman,
I really appreciate the piece of info. But i thought CC genotype is the equivalent of SS like i was told. Wont a child with CC genotype be a sickler?
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mazaje (m)
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@ Skillmyman,
I really appreciate the piece of info. But i thought CC genotype is the equivalent of SS like i was told. Wont a child with CC genotype be a sickler? I will be really interested in reading an answer from any body in the house to this question. |
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fsb (m)
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@ Emmion
Sorry, its really been a long while since I read this thread, Its possible that your genotype has always been AC and that there were discrepancies with the second test results, One thing you must understand is that in terms of geographic distribution, the hemoglobin C allele is found at the highest frequencies in West Africa and it has been associated with protection against malaria.
A good number of people have the C allele but are unaware of it.
Also note that most people with the AC genotype show no symptoms,
About your financee who is also AC, well, if you put the stats together as I explained in my earlier posts:
For every child you'll have together, there is a 25% chance he/she will be AA, a 50% chance he/she will be AC and a 25% chance he/she would be CC.
Again, please don't think that CC and SS are the same. THEY ARE NOT, and that is in capital letters, Anyone who tells you so, doesn't know CRAP. Sickle Cell Dsx is a whole chapter on its own and writing about it will make this extremely lengthy,
@ mazaje
You can't even begin to compare the differences in severity between CC and SS disease,
Symptoms of Hemoglobin C dsx (CC)
Most people do not have symptoms. Occasionally, jaundice may occur.
Complications of Hemoglobin C dsx
Sometimes, they may experience the following:
Cholelithiasis (gall stones that may require treatment)
Splenomegaly (big spleen)
Angloid streaks (causing poor vision)
Aplastic crises (due to viral infection): episode of severe anemia
Treatment
There is no treatment. Folic acid supplementation is required to help the body with red blood cell production and improve symptoms of anemia.
Prognosis
Note that unlike the Hemoglobin S dsx (SS), pxts with Hemoglobin C dsx have a normal life expectancy,
Before I forget, what about SC genotype?
Please note the following:
AA: normal pxts
AS: don't show any symptoms
SS: sickle cell disease (sicklers)
AC: don't show any symptoms
CC: described above
SC? This condition is associated with recurrent anemia (breakdown of red cells in the blood vessels) and pain crises (vaso-occlusive crises). Some may also experience aseptic necrosis of the thigh bone (femur). Summary is that it is bad,
I do hope all the above helps,
Regards,
fsb,
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