12/07/2023
To avoid ambiguity... Know your blood group
The AS AC SC SS and CC genotype.
What you have 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
There are different types of Hemoglobin; among them are Hemoglobin A, Hemoglobin S and Hemoglobin C.
Hemoglobin C is very rare.
Everyone must have a pair of these hemoglobin in their blood, each inherited from both parents.
The pairing might be in any of the following formations: AA, AS, AC, SC,SS OR CC.
A man with AA can marry anyone without any problem (medically); likewise the woman.
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 poo 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, either your landlord or next door neighbours are highly involved (just kiddin Oluwa isn't involved').
So for you to get C, you must have a parent who carries a 'C' in his or her genotype.
Likewise the S must have a parent with S genotype
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!!!
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, we 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!!!
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 we 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,
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,
PLEASE NOTE THIS AND HELP SHARE WITH A FRIENd
A man or woman with AS or AC or SS or SC or CC (very rare) cannot marry each other, if they want to avoid SS or SC.
They must marry a partner with AA, if they don't want to born a child with Sickle call syndrome.
If AS or AC marry each other, they have 25% chance of having a sickle child at every birth. If they marry SS or SC, they have 50% chance of having a sickle cell child at every birth.
Please note all their kids could be AS AC or AA.
If SS or SC marry each other, it's is nothing other than a terrible disaster.
All their children will have Sickle cell
SC and SS are almost the same only that SS suffers more severe crisis than SC carrier. You might not notice the presence of the disease on the body of SC carrier, unlike in SS.
Solution
The only thing that can change the genotype is an intentional act like BMT.
Bone Marrow transplant technology has been proven to be the only permanent cure to SS SC and CC; however, it is new, very expensive and cannot be done in any part of Africa, and carries some risks.
Naturally, environment or time cannot change genotype.
Please Note: Divine Miracles can change it as well - it has happened in so many part of the world.
Again, some SS carriers may start experiencing crisis at late age (as late as 40s).
If these sets of people go for test in a quack lab, definitely the lab technician will assume AA or AS since the person is not having the symptom.
Later in life it will become obvious when the symptom have come up, and another lab technician will report SS.
To all unmarried folks, please know your genotype and that of your spouse.
Only people with AA genotype can marry people of other blood groups AC AS SC SS or CC without any medical complication.
