Sickle cell anaemia: pathogenesis, triggers, clinical features and treatment ...

Good day, my beautiful people,
I know you have been hearing of this pathological condition, sickle cell anaemia which we abridge as SS in this part of the country but do you actually know what it's all about?

In this post, I'll be walking you through exactly what it's all about and I do hope you learn something new....

Designed using Canva

What is Sickle Cell Anaemia

This is the pathological condition where someone inherits the S haemoglobin in homozygous state, that is the person has two S haemoglobin (SS), one from each parent.

What is the Difference?

In other haemoglobin structures like AA, AS, glutamic acid is present on the position 6 of the beta-haemoglobin chain but for sicklers, valine replaces this.
Someone might think this isn't a big deal but well, that's the main issue with the whole to-and- fro sicklers go to the hospital for.

Do you know how?

This valine is a fat soluble amino acid unlike glutamic acid which is a water soluble amino acid, under low oxygen (hypoxia), it makes the red blood cells of sicklers to clump together forming tactoids leading to blockage of blood vessels causing severe pain.
Even as the red blood cells are clumped, they still try as much as possible to pass through these blood vessels and this rigidity causes these red blood cells to break easily (fragility) thereby reducing their lifespan.

Triggers

Under good oxygen saturation, sicklers have no problem at all but there are some conditions at which causes these red blood cells to sickle....

• Low oxygen concentration
• Infections
• Malaria
• High white blood cells
• Fever
• Dehydration

Clinical Features

These are some symptoms that you will see in a child and you will suspect that the blood group might be SS prompting you to check the blood group....

Dactylitis:

This is also known as hand-foot- syndrome and happens by swelling of the hands and feet of the child. This usually happens at 6months although it isn't a must that every sickler must suffer this just that it's a great pointer to it.

Hepatomegaly:

This simply means enlargement of the liver. Just like you've seen above that sicklers' blood clump up to form tactoids and block blood vessels, sometimes, these blockage occur within the liver causing them to enlarge.

Splenomegaly:

This simply means enlargement of the spleen.
The spleen is charged with destruction of worn out and malformed red blood cells; sicklers' red blood cells are deformed in morphology by the sickled shape they have, hence, whenever they reach the spleen, it breaks them down amd because of the excessive breakdowns occuring in sickle cell crisis, they get bigger... What is called hypertrophy.

Jaundice:

This is the yellowish discoloration of the skin and sclera and happens as a result of excess bilirubin in the body.
Bilirubin is one of the by-products of haemoglobin and as a result of the excessive breakdowns, the bilirubin level in the blood gets too much that the body is overwhelmed to excrete all of them and as such, it starts depositing in the skin and sclera causing jaundice.

Treatment

The truth is that there is no definitive treatment for this pathologically condition however there are various ways by which it could be managed to atleast help the patient live a better life avoiding the whole constant hospital visitation....

• Adequate Hydration:

By adequate hydration, I simply means taking enough water; when sicklers take enough water, it helps prevent dehydration which is one of the major risk factors that causes them crisis because it favours blood clumping.

• Malaria prophylaxis:

Regular taking of malaria prophylaxis helps to reduce the crisis sicklers have and also the severity.

• Avoiding High Altitude:

The higher you climb mountains, the less oxygenated the air you breath in becomes and low oxygen (hypoxia) is one of the major triggers of crisis.

• Folic acid supplementation:

Because of the recurrent haemolysis (red blood cells breakdown) sicklers suffer, the body keeps on producing more and more to match up with the breakdowns and folate stores keep depleting, as a result of that, sicklers are given folic acids to help build up their folate stores.

• Health education and Counselling:

This is the most important factor.
It's always painful when I see sicklers in the clinic because I know that this could have been easily prevented just with enlightenment.
Please, before we start "our love is blind motto", please let's all endeavour to check our blood groups and ensure they are compatible to save this little ones from the pain that comes with these sickle cell crisis.

---

I hope you learnt something new or I remembered you what you already knew...

Thanks for reading and have a great day ahead

For further readings...

• https://www.cdc.gov/ncbddd/sicklecell/facts.html

• https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876

---