Your Next Steps After Sickle Cell Anaemia Diagnosis
November 24, 2020
Updated August 2023
How do I look after my child after a Sickle Cell Anaemia diagnosis? What causes them to be ill? What is the best treatment? Where can they get treatment? Can they play football, or what happens if they get malaria?
These are some genuine worries parents have for their kids with the SS Genotype, which causes Sickle Cell Anaemia.
In AskAwayHealth, we specialise in Sickle Cell Anaemia to help raise awareness about its issues and help us manage the health burden it causes.
These conditions involve a blood disorder affecting the red blood cells, which passes among families.
There is a genetic disorder affecting the particular blood cell which carries haemoglobin.
Haemoglobin is an important protein in our red blood cells, ensuring enough oxygen circulates around the body.
For conditions like Sickle Cell Anaemia (SCA), once you have the ‘wrong code’ (gene), the condition will affect you for life.
How do you get the ‘wrong code’, though?
All Sickle Cell Diseases (SCD) are inherited conditions – passed from one family member to the next.
The genes (codes) usually occur in pairs. Having just one abnormal code (S gene) means you have ‘Sickle Cell Disease’. There are several ways in which the code can be structured.
In Sickle Cell Anaemia, both codes are abnormal, so the individual will have the SS gene.
If you want to know more about the difference between these two terms (SCA and SCD), check out this video, which explains in detail.
But we are looking at counselling, and we picked this topic because of an enquiry received on our Facebook page.
A new father was devastated, having just discovered their baby girl has the SS genotype.
Why was he shocked?
Before they married, he and his fiancee took genotype tests. He was AA, and she was AS.
So as far as they knew, they expected any kids they had to either be AA or AS – and if you would like to understand how the SS genotype is inherited and the chance of kids inheriting the SS genotype, then watch this video here.
So in this type of parent combination, we expect that any kids born have a 50% chance of being AA and a 50% chance of being AS – they should not have a child with the SS gene.
Well, after she turned 6 months, their daughter was admitted with serious illness, and in the course of tests to treat her, her genotype was found to be SS.
The parents had to repeat their tests, and Dad found he was actually AS.
So these parents are 2 sickle gene carriers, and if you watched my video, you would know that each child of this couple has a:
And now, he asks for counselling to deal with the current situation – the shock of this new sickle cell anaemia diagnosis and manage things going forward (child ill in hospital, and the future of this child and other kids, their marriage – the works).
According to the Sickle Cell Foundation Nigeria, in a report published with a national population count of 160 million:
(In numerical terms), over 40 million Nigerians are healthy carriers of the sickle cell gene, while over 150,000 babies are born each year with sickle cell anaemia (Hb SS). This is by far the largest burden of the disorder anywhere in the world, and most of these children would die in childhood from ignorance and lack of access to proper diagnosis and care.Sickle Cell Foundation Nigeria
This is why counselling for Sickle Cell Disease is so essential.
Genetic counselling helps to guide people through how an inherited condition like SCD happens, why, and what causes them and their families to be at risk.
It looks at all the options they have to prevent or manage the condition and the chance it repeats in the family. This includes discussions about treatment options available.
In addition, potential effects on an individual’s lifestyle are considered to help prepare minds for the condition’s impact.
Commonly people look at the possible outcomes to decide: If I am AS genotype, can I marry a person who is also AS and have children together?
You may have your own opinion, but this is not a question anyone can answer except for the specific people concerned – all we can do is advise about the implications if they choose to go ahead.
The impact on children with the SS genotype is quite profound, and the matter should be carefully considered.
So you see why counselling is essential and understand that genetic counselling helps people with or related to people with the S gene understand inherited conditions and how they happen. The risk could happen and repeat in the family.
But there are so many other questions to ask following a sickle cell anaemia diagnosis.
For a family that is hardly prepared to deal with the situation of having a child with the SS genotype, the present (and future) can look fearful and traumatic.
These are some of the essential issues in families where someone has SCA needs to consider:
What’s The Most Likely Cause For My Child’s Symptoms?
(Related – Are there other possible causes?)
Answer: SCD is a disease passed in the family from one person to another, where the structure of the red blood cell is abnormal and leads to several problems and overall ill health.
This article covers the different types of illness people can get from having the abnormal sickle or S gene.
Their blood cells cannot carry oxygen properly at any time, so they are anaemic.
We know this (anaemia) makes people susceptible to even more ill health in cases where other people would be fine – exercise, stress, and dehydration are just a few examples of when a person with SS may fall ill.
In respect of cause, SCD is quite a specific problem; once the gene abnormality is present, it’s challenging to allocate cause elsewhere.
SCD is not an infection like HIV or AIDS, and it is not due to any problem during pregnancy.
It is NOT a form of Cancer or Leukaemia. It is not the same as Iron Deficiency, and you cannot ‘catch’ it from another person.
Sickle Cell Anaemia happens because the child has received the S gene from BOTH parents.
What Tests Are Needed?
Answer – Over time, people with the SS gene may require several different tests at one stage or another.
One that will certainly be constant is blood tests.
Blood tests show the level of anaemia or how well the organs work.
If admitted for an illness, depending on the symptoms, they may require urine tests, X-rays or scans, and so much more to help diagnose and treat.
Your doctor or nurse will explain what test is required and the reasons for them.
However, regular blood tests can be a routine for people with Sickle Cell Anaemia.
What treatments are available, and which do you recommend?
(Related – What Side Effects Are Common With These Treatments)?
Answer – There are several possible treatments. Some are for the prevention of sickness and are given as routine.
An example is a vaccination to prevent common illnesses like pneumonia or using antimalarials. Others are for treating specific conditions, such as antibiotics or blood transfusions.
The side effects of treatment can be very specific and something your doctor or nurse will prepare your mind with – depending on the treatments they are having.
We also look at possible cures available worldwide in 2020 for Sickle Cell Anaemia – watch the video here.
What are My Child’s Chances?
Answer – This is a question whose answer is unique for every child.
Knowing your ‘prognosis’ means a (medical) forecast – telling how the illness might or will progress in future.
Making a prognosis involves looking at the child’s general health, how often they have been ill and their response to treatments. It’s not a guess because it uses previous studies and research to look at the chances of developing future problems.
It is a critical discussion to hold with your child’s specialist – usually, this is a haematologist.
They treat conditions that affect the blood and its cells, like sickle cell anaemia, other types of anaemia and so on.
While knowing the prognosis is useful, it should not be your main focus.
As individuals are different, and while we understand how sickle cell disease affects the body, access to treatments and other supportive care can make a difference in the result of treatment from one person to the other.
Are There Dietary or Activity Restrictions?
Answer: This is so important. Apart from the haematologist, other medical practitioners can also be involved in caring for a child with an SS genotype if necessary.
Examples are dieticians or physiotherapists. There are no specific diet restrictions for a child with SS anaemia, and they should have a balanced combination of the different food groups.
Regarding activity, stress – including physical stress- can sometimes provoke a crisis and lead to ill health, so avoiding severe exertion or lengthy exercise is important.
This needs to be balanced against their need to be involved in some physical activity to help build them up.
Again, it is individual and depends on the child’s health and well-being. Too many restrictions could also be damaging.
Here are some sensible tips:
Discussing these suggestions and working with your child’s school teacher about these, and keeping an eye on your child can support them to have a happy, balanced time in school.
Do You Have Brochures or Other Printed Material That I Can Have? What websites do you recommend?
Answer: Many people feel lost and find it hard to get the information they need.
Why is it important to learn about the condition?
Mainly, it is because knowing more about it makes you feel less uncertain and afraid of the condition.
This allows you to better handle the condition for yourself or your child, understanding what happens in the body and how you can protect your health and boost it.
At AskAwayHealth, we provide helpful health information and can guide you in many of these enquiries. Ask here or subscribe by clicking the blue button on the top right corner to join our health community.
If you or someone in your family has sickle cell anaemia, you might want help coping. Consider:
You see – we could spend so much more time talking over all these issues that arise after sickle cell anaemia diagnosis, but I share just a few pointers that hopefully get you in the right direction.
What are some of the important issues you would like to know following a Sickle Cell Anaemia diagnosis?
Please share them in the comments below.
Editing by AskAwayHealth Team
All AskAwayHealth articles are written by practising Medical Practitioners on various healthcare conditions to help promote quality healthcare.
The advice in our material is not meant to replace a qualified healthcare practitioner’s management of your specific condition.
To discuss your condition, don’t hesitate to get in touch with a health practitioner or reach us directly
Image Credits: Canva
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