All About Genotypes: The AS, AC, SC, SS and CC genotypes

The major component of human blood are called cells and are in varieties, and the most predominant of which are called RED BLOOD CELLS (RBCs...

The major component of human blood are called cells and are in varieties, and the most predominant of which are called RED BLOOD CELLS (RBCs).

These cells contain within them a component known as HEMOGLOBIN, a substance without which the RBCs are invariably useless. This hemoglobin itself is composed of 2 parts: a heme (Basically is a complex Iron-protein) and globin (2 pairs of protein chains), this is the important part of the Hemoglobin.

In the -globin there are 2 alpha and 2 beta globin chains - these pair of chains have a normal way they are supposed to be structured so that when the pairing does not conform with the regular structure, there occurs an error.

The error actually occurs when a protein substitution occurs in any one of these chains - but particularly in the globin chains.

Supposedly, you already 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 quench your satisfaction on your possible questions and doubts in the genotypes, this article focuses on the genotypes AA, AS, SS, AC, SC.


Structural Forms of the Genotypes

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.


Different Types of Hemoglobin

There are different types of Hemoglobin and among them are Hemoglobin A, Hemoglobin S and Hemoglobin C. Hemoglobin C is a very rare type. Though it's now becoming more common. Everyone must have a pair of these hemoglobin in their blood, each inherited from both parents.

The result of the pairing might be in any of the following resulting formations: AA, AS, AC, SC,SS OR CC.


How Do you Get your Genotype?

As simple as it may seem but you can only get your Genotype from your biological parents.

For instance, if papa and mama gave birth to a child named bomboy. Bomboy's genotype would comprise a pair of hemoglobin from papa bomboy and another from mama bomboy. OK now, to make it clearer, let's supposed papa bomboy has a genotype AA and mama bomboy has a genotype AS, bomboy can only have either of the following genotypes:

AA Genotype

AS Genotype

Therefore, for each pregnancy and each bomboy papa and mama bomboy may ever give birth to, they have a 50:50 probability of being AA or AS.

Now, 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.

The word unlikely is used because poo happens sometimes. 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.

So for you to get C, you must have a parent who carries a 'C' in his or her genotype. The same goes for other genotypes.

Any Clinical Complications for "C" Genotypes as in "S"?

Peoples that carry the Genotype SS are known with major crisis and those with SC are known to also have issues but never as chronic as the SS. What about the peoples with the AC genotype? Well the good news is that MOST TIMES THERE ARE NO SYMPTOMS, but occasionally, there is JAUNDICE.

Meanwhile, just so you may know, the following genotypes AA (healthy as healthy can be) is the regular and normal genotype while the traits: AC, AD, AF, AG, A+FAST, AE and AS are also not associated with any clinical signs, symptoms or syndromes - they as relatively as healthy as AA.

Genotypes associated with clinical features are: SS, SC, CC (are associated with clinical signs, symptoms and syndromes).


What Effects Does Genotypes Have with Marriage?

While peoples do survive with any of the genotypes, to avoid frustrations, severe pains (for the child) and severe set back (in financial, moral and social life) of the family, it is highly recommended that you get married with someone whose genotype can go well with yours with no possibilities of either of the following genotypes in your siblings: SS, SC and CC.

You can't even begin to compare the differences in severity between CC and SS crises (diseases).

Note:

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.

Note that unlike the Hemoglobin S dsx (SS), pxts with Hemoglobin C dsx have a normal life expectancy.


The Genotypes at A Glance

Please note the following:

AA Genotype: normal pxts

AS Genotype: don't show any symptoms

SS Genotype: sickle cell disease (sicklers)

AC Genotype: don't show any symptoms

CC Genotype: very similar to SS

SC Genotype: this condition is associated with recurrent anemia (breakdown of red blood cells in the blood vessels) and pain crises (vaso-occlusive crises). Some may also experience aseptic necrosis of the thigh bone (femur).


For reference purposes only, 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.


Little Advice On Genotype

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 Cell syndrome.

If AS or AC marry each other, they have 25% chance of having a sickle cell 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 that all their kids could also be AS, AC even 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.


Possible Solutions for the SC, SS Genotypes Carrier

If you think there might be a solution for the SC and SS genotypes, you are right. The only thing there is is that the only known solution for now is BMT, Bone Marrow Transplant. The 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 too.

Note

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 any symptoms.

Later in life it will become obvious when the symptom emanate, and another lab technician reports SS.


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Bloggers Guides by ArykTECH: All About Genotypes: The AS, AC, SC, SS and CC genotypes
All About Genotypes: The AS, AC, SC, SS and CC genotypes
Bloggers Guides by ArykTECH
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