Basic understanding of the Human Genotype and it's significance to human survival

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Avatar for Onyxchuzzy
3 years ago

I recall one of the most heartbreaking counseling sessions I have ever attended in my life, during my clinical posting. A couple who just got engaged and have been dating for almost 6 years enrolled for marriage counseling class in their church and they were asked to go for genotype testing.

It seemed as though the heavens had turned its face away from this once very happy couple as the doctor walked into the room holding their results. The Doctor asked them if they understood the significance of the test they just took and they said no, what's more, heartbreaking than being separated by something you don't understand.

The doctor tried to explain what genotype was and how it could affect them, and their marriage. They once happy and cheerful couples who were holding their hands and filled with smiles now looked pale and uneasy. The news that the doctor was about to give them was one of the hardest things to hear. They were both AS genotypes, and hence, were advised not to marry.

"But we have been dating for 6 years and we are already engaged!" The man screamed. He could not understand how some test would determine if he could marry his heartrate or not. The church refused to we'd them and discouraged them from going on with the wedding. But as they said, love is blind, and so this couple decided to go on with the wedding in another church that did not need a genotype result. The outcome, we'll find out.

So the question is, what exactly is Genotype and why is it so important, especially in marriage?

Genotype simple means the species of protein molecule found in the Hemoglobin of the human Red blood cells. Hemoglobin is the red pigment in the human red blood cell, responsible for the transportation of oxygen to the body tissues and cells. There are do many classes of Hemoglobin strains it proteins but the most important or significant is (Genotypes)

AA

AS

SS

AC

SC

The genotype of a person to a large extent determines how optimally a person can transport oxygen under stress. The AA genotype has been said to be the best with optimal oxygen transportation even under stress or low oxygen tension, followed by the AS (nite that A is the dominant Gene while S is the recessive gene).

The S variant when it manifests in the human blood, in its homogeneous state, that's SS, leads to an inherited disorder called sickle cell disease. This disease is a disease of the hemoglobin, in which it forces the red blood cells to deform, mostly in the form of a sickle, hence distorting its morphology and subsequently it's function.

This sickling of the red blood cells usually happens when there is a low oxygen tension or when the person is under stress. The sickling is possible as the cell membrane of the red blood cells is weakened and also the Hemoglobin causes a change in its structure.

So what's happens to a sickled cell?

A Normal red blood cell is supposed to live for about 120 days, but once sickled, it is immediately hemolyzed and removed from the blood circulation prematurely, thus reducing its life span and also the number of red blood cells available to transport oxygen to the body tissues and cells. This situation is called sickling crises and the person is called a sickler.

Symptoms of sickling crises include

Paleness

Low Packed cell volume

Shortness of breath

Tightness in chest

Lethargy

Multiple organ failure and so on

How is this principle Important in marriage?

The genotype of a person is inherited following the mendelian rule of inheritance, where a gene is gotten from both the father and the mother and given to the offspring. In this case, one gene is gotten from the dad and another from the mother.

Thus, if one of the parents is AA, they could marry any of the other blood groups, ensuring that an A gene is always present in the child's genotype.

But if both parents are AS or one is AS and the other SS, then there is a possibility of given birth to an SS child. Note that the sickle disease mostly manifests in its homogeneous state, hence only SS.

This is why the genotype test is important. The diagram below explains further.

Back to the story, five years later, the man and woman who refused to listen to all advice and decided to marry, have to their record, two dead children who died from sickle cell disease and a one-year-old baby struggling to survive from the same disease. They learned to listen the hard way, after 6 years of dating, 5 years of very turbulent marriage, they finally had a divorce. They have 3 dead kids as a reminder to always listen to their health care professionals.

I hope I gave the basics into Genotype.

Thanks for reading.

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