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AS Genotype - 7 point Checklist

This AS genotype 7-point checklist summarises key points involved with Sickle Cell Disease that people with AS genotypes could experience as a result of their choice of partner with whom they have children.


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What is Sickle Cell Disease?

Sickle Cell Disease, (SCD) is a disease of abnormal blood (red blood cell) haemoglobin. 

The abnormal haemoglobin cannot carry oxygen effectively and makes the red blood cell misshaped ("sickle").

For those with the SS gene, they develop Sickle Cell Anaemia (SCA).

This leads to several different problems like anaemia from low levels of oxygen circulating.

Sickle blood cells block the blood vessels leading to painful crises in the bones and other parts of the body.

They are easily susceptible to infections and are often physically weak and unable to withstand stresses like exercise or dehydration.

They could die from problems with low blood levels, strokes or could become victims from inadequate treatment or poorly equipped facilities.

The burden of SCA on an individual, their family and overall health is huge. 

On an individual, frequent ill-health affects school and may contribute to mental health problems, in addition, to the physical health challenges. 

The burden on the parents of children with SCA is high as well - the emotional distress as well as the financial; especially in areas where health care provision is limited leading to complications.


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INHERITANCE

How did you become AS Genotype?

Well, SCA is inherited from both parents who are either AS or SS.

The cause of SCA is the abnormal haemoglobin gene S.

A person with the disease needs to have 2 copies (1 pair) to express the disease or show the condition.

But if a person has only 1 copy of the gene, they are AS.

To become AS, you inherited one abnormal gene from one parent, and a normal gene from the other parent.

We've always believed the gene structure we are born with cannot be changed.

And the implication is that you would pass an abnormal gene to your child.

An AS/AS couple who are pregnant have a 25 % chance of having an SS baby from gene inheritance.

 And, the risk that the child is AS is 50%; while the risk the child is AA is 25%.

With the evolution of gene therapy, though, advances are being made for the cure of sickle cell anaemia/disease.

Scientists believe they can now make a person's red cell RNA to stop producing sickle haemoglobin by providing genetic instructions.

This is thought to be at the stage of 'promising clinical trials' in the USA at the time of this publication (May/June 2020).


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PRENATAL TESTING - WHAT YOU SHOULD KNOW

Could you test the baby before its born?

Yes, it is possible to do prenatal testing when a woman gets pregnant.

There are different methods that could be used.

One of them involves taking cells from the placenta (chorionic villus sampling) to test for a genetic abnormality.

It is usually performed around 11-14 weeks.

There is another method called amniocentesis which is performed later in pregnancy (15-18 weeks) but for similar reasons - to identify any gene defects.

Amniocentesis also carries a risk of infection and miscarriage as does Chorionic Villus Sampling.

They are both highly specialised processes and not so freely available in many LMIC (Low and Middle-Income countries) like Nigeria where the burden of the disease is highest globally.

Even when carried out in well-equipped facilities, they still carry a risk of miscarriage or infection to the Mum. 

If the child is determined to have a genetic disorder (like Sickle Cell Disease), one of the options considered is the termination of pregnancy.

Many couples of Nigerian background are religious and unwilling to go through with termination of the pregnancy.

This is something people with AS genotypes must be aware of; and consider if they are in a relationship with someone of similar genotype.

Another form of prenatal screening is Preimplantation Genetic Diagnosis (PGD or PIGD).

PGD is process that happens very early on in the life of the embryo.

It involves using in vitrous fertlisation, IVF to obtain eggs from the Mum which are fertlised with sperm from the Dad.

The very young embryo is then tested to detect if abnormal genes are present.

Some of the analysis can happen by the third day or the fifth day of life.

PGD is a significant breakthrough for sickle disease - but can come with some challenges - we discuss more here.


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PAIN POINTS WHEN LOOKING AFTER KIDS WITH SCD

  • Frequent illness
    • These can happen in children as young as 12 months onwards.
    • A lot of the illness symptoms are discussed further here.
    • They require special treatments when ill, and medications to maintain health.
  • Missed School
    • This obviously follows on from frequent illness - and impacts on the child's development; although with support it is not insurmountable.
  • Emotional /Mental Strain on the family
    • Ill health in one family member impacts everyone else.
    • Other children may feel neglected when one child continually takes the parents' attention from illness.
    • They may also feel the need to step into an older role sooner than they are prepared to cope with the situation.
    • Frequent illness and stress may divide the relationship between the parents - arguments over treatment options, guilt and blame that would inevitably arise with the pain of dealing with the condition.
  • Economic Strain
    • In LMIC like Nigeria where health care is mostly out of pocket expense, people can come under significant strain from expenses of hospital costs as well as supporting everything else.
  • Difficult Choices
    • Its important people know the issues with having a child with SCD.
    • They must realise that people with SCD go through severe pain, serious infections, experience breathing problems from anaemia and other concerns.
    • Must it be a choice of lost love over practicality? Not all the time. Other options can be considered.


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WHAT ARE THE OPTIONS?

  • You could choose to end the relationship with a partner who also has the AS genotype.
    • This means consciously choosing to forego a possibly long term relationship with the hopes and dreams involved.
  • You could choose to stay in your relationship but adopt children rather than have natural offspring.
    • For many Africans, this is not a choice - as people feel a deep need for offspring from their bodies, but it provides a solution for those who wish to use it.
    • Partners can opt for sterilisation: men could have vasectomy while women could 'tie their tubes'.
    • This would avoid natural pregnancy as sterilisation is, after abstinence the most effective method to prevent pregnancy.
  • You could choose to have natural offspring, being aware of the risks.
    • We have spoken of prenatal tests already but addressed the key limitations.
    • These are miscarriage, infection, not people's natural choice due to culture or religion; and the availability of the tests in one's local area.
    • While they are NOT an option for everyone, they could be considered for some people.


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PRECAUTIONS

First; standard practice is to be aware of one's genotype so you've scaled the first hurdle!

But many people still do not know their genotype. And the risks of having a child with someone else who has an AS/AS genotype or AS/SS genotype is a considerable risk.

Ask early in any relationships. Make it a habit - you see someone and like them - ask their genotypes.

This allows you to avoid engaging your heart with someone of a similar genotype very early on.


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KNOWLEDGE HELPS

People with AS genotype do not suffer from SCD.

They live mostly normal lives, and one of the main issues of note is related to the possibility of offspring with SCD - if they are in a relationship with other AS individuals.

However, people with AS genotype must look after their health too.

For an AS individual, we know red blood cells are not fragile and do not break easily.

So having the sickle cell trait does not cause painful crises.

Rarely, though people with AS die suddenly while undergoing very strenuous exercise that causes severe dehydration.

Examples of such strenuous activity include: military or athletic training.

In addition, people with sickle cell trait (AS) are at increased risk of chronic kidney disease and pulmonary embolism.

Rarely, they may notice blood in their urine.

People with sickle cell trait are also at risk for an extremely rare form of kidney cancer.

Progress is being made in managing SCD in some countries.

Some people with SCD have access to effective treatment and monitoring and can live productive happy lives.

Sadly in many LMIC, access to care that is timely, effective and helps to prevent illness is NOT available.

This is why there are frequent illnesses or deathas associated with SCD.

These tips will help develop your awareness for yourself, friends and family.


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