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An AS? There is something you should know.

Source: genome.gov

I have been asked a lot of times, by people with the AS haemoglobin genotype, if there is any cause for alarm. But as with a lot of things, advantages and disadvantages always seem inseparable. Let’s find out if there is any cause for alarm or not.

AS, also called sickle cell trait (SCT) is when someone inherits one sickle cell gene and one normal gene from the parents. They do not have any symptoms of sickle cell disease but can pass the trait to their children. And if they get married to someone with sickle cell trait, there are possibilities of giving birth to a child with sickle cell disease (SS).

Sickle cell inheritance pattern.
Source: cdc.gov

Being an AS does not pose any serious threat to health but some individuals with AS may have rare complications. In 2010, the earliest proof of sickle cell was discovered by the National Institute of health in an American soldier with AS genotype, during an autopsy. He had a sickle cell crisis and died, though he was AS.


SCT is most prevalent in Africa and central American countries, but can also be found in other areas that are prone to malaria.

Complications of SCT


Most individuals with SCT do not have any complications, but in rare cases, and at extreme conditions, pain crisis can occur.


Some of these situations are:


• Low oxygen concentration in high altitudes, intense exercise, or athletes training


• Dehydration


• Increased atmospheric pressure (example: while scuba diving)

Mountain climbing (high altitude). Source: neice.com

Diseases associated with SCT


SCT is associated with several diseases but these associations does not always mean a negative thing, some are actually positive associations.


Malaria: A person with AS genotype is at a significantly lower risk of dying from malaria (especially when Plasmodium falciparum is implicated) in areas where malaria is endemic. People with this trait become increasingly numerous as malaria infected people increase. This is a process of natural selection and adaptability.
The positive association between sickle cell trait and malaria has been ascribed to several things, one of it being that the sickle haemoglobin prevents the parasite from infecting the red blood cells thereby reducing the number of cells that can be infected and the number of parasites that can infect the host.

Source: livescience.com


Blood in urine: There might be blood in urine for several reasons and one of it is being an AS. But before concluding that blood in urine is caused by being an AS, other causes of blood in urine should be ruled out. Blood in urine is usually detected when instead of the normal pale yellow colour, urine shows pinkish, reddish or brownish colouration. Some times, blood in urine cannot be detected with naked eyes.
Reasons that might cause blood to be detected in urine as a result of SCT remain unknown but can be attributed to dehydration and extreme exercise.

Source: wisegeek.com


Urinary tract infection: Sickle cell trait has been linked to increased risk of urinary tract infection but the reason for this is also unknown.

Urinary tract. Source: research gate.net

Sudden death due to physical exertion: This has been seen in African American US army recruits.


Other diseases associated with SCT are cancer of the kidney, leg ulcers, stroke, liver diseases, eye diseases, migraine, foetal loss, anaemia in pregnancy, diabetes mellitus type 2 (worsens complications), etc. Some of these associations are already established while some others are probable or do not have enough evidence backing the association.

As we have seen, there is no cause to panic as an AS but you should be careful about exposing yourself to certain environments. You also now know that there are diseases you are prone to than other people, its time to look back and know if you have had any of these diseases recurrently and attributed them to something else.

Take necessary precautions, stay hydrated and always see a doctor whenever you feel unwell.

Stay safe!


Maureen

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