Simplified! All there is to know about Sickle Cell Disease
Do you know what it means to have SC or AC genotype? Do you have a relative or a friend that has the Sickle Cell Disease?
Falling ill frequently is often attributed to this condition.
It is a challenging health condition that would have been avoided if the parents of the affected person were aware of their genotypes before deciding to have a child.
A child may also be born unintended due to unforeseen circumstances such as rape or consensual unprotected sexual intercourse.
The crisis that accompanies this health condition is very debilitating. From severe pains to deformities, the effect of SCD can be life threatening.
Fortunately, there is a trusted cure. Want to know what it is? Read on.
In this article, we address all there is to know about the Sickle Cell Disease.
What is Sickle Cell Disease (SCD)?
SCD, also known as Sickle Cell Anaemia, is a disorder that causes the Red Blood Cells in the body to break down easily and also give it the crescent shape.
What is the Cause of SCD?
There are several types of genotypes namely AA, AS, AC, SS, SC and CC which are genetically passed down from parent to child.
Persons with Genotype AA are healthy and have no gene of sickle cell disease in them hence, they can have children with anybody’s genotype.
People with Genotype AC and AS are carriers of the gene that is responsible for sickle cell anaemia but are healthy.
They do not fall ill from sickle cell disease; they simply have the tendency of having kids with abnormal genes.
Those with Genotype SC are carriers of sickle cell disease. They have the tendency to pass it to their kids if they marry or have a child with someone that carries the sickle cell gene (S and C).
They can also fall ill from sickle cell disease but it is very rare.
Persons with Genotype SS and CC have the sickle cell diseases and they fall ill frequently.
Most of them often require to be admitted in a hospital for a greater part of their life.
SCD occurs as a result of being born by parents who have the sickle cell gene (SS and/or CC).
Below is a chart that further explains Genotype Compatibility.
How Does SCD Affect Health?
Due to the fact that a person has the dominant sickle cell trait (SS and CC), the Red Blood Cells are misshaped and short lived.
The main functions of the Red Blood Cells (RBCs) are;
1. Transport oxygen, that we breathe in, to the body tissues from the lungs needed for daily activities.
2. Remove carbondioxide (waste product) from the body tissues to the lungs for us to breathe out.
The normal life span of a RBC = 120 days but in a sickle cell patient, RBC = 10-20 days especially when they are stressed from Illness, harsh weather conditions and strenous activities.
The Red Blood Cells are biconcave in shape and are very flexible when they move around the body in blood vessels in healthy people.
Whereas in sickle cell patients, they are crescent shaped, rigid, sticky and find it difficult to move in blood vessels, as they slow down or block blood flow especially around joints causing extreme pains and damaging organs.
What Are The Symptoms of SCD
Now that you know how SCD affects health, you can tell why that person you know that has this disease feels lots of pain in the joints and bone.
Some other symptoms include;
1. Dizziness and general body weakness; Occurs due to the poor rate at which oxygen is diffusing into body cells caused by sickle RBCs.
2. Jaundice (yellowish discolouration of the eyes and skin); Occurs due to the fast rate at which RBCs breakdown and release a pigment called Bilirubin, which when excessive in the blood causes the yellowing of the body.
3. Rounded abdomen/pushed out ribs: Due to the need for replacement of the dying RBCs, the long bones and spleens are over worked to produce more and more blood cells hence they increase in size abnormally causing the abdomen to protrude.
4. Bedwetting due to problems in the urinary system.
What Are The Complications Of SCD?
- Severe anaemia
- Kidney problems
- Chronic wounds especially on the legs; they take a very long time to heal once they develop.
- Immunocompromised health
What are the Treatments for SCD
Persons affected with SCD often receive treatment to reduce symptoms or prevent complications.
It involves fluid therapy, a wide range of medication from analgesics to supplements and blood transfusion.
The ultimate change and permanent cure to SCD is the BMT procedure.
Bone Marrow Transplant (BMT) has been proven to cure sickle cell traits namely S and C permanently.
The BMT procedure cures SCD by removing the cell that are responsible for producing the abnormal Red Blood Cells and replace them with healthy ones.
There are challenges to the BMT procedure and they include:
- The awareness on this procedure is very low
- It is very expensive
- It is a risky procedure of which many patients may not be able to tolerate.
- It is difficult to get the right donor because only children or persons with a sibling with identical but non-sickle RBCs can qualify to be a donor of which according to research, only 14% of patients are expected to have a match like that.
Studies are ongoing to find a more convenient cure to SCD, hopefully one is found soon.
SCD is very expensive to treat, thus, it is important to be very mindful of the genotype of your partner.
In cases of rape, it is necessary to make measures to prevent unintended pregnancy by going to a clinic for proper assessment and access to emergency contraceptive which is also needed in cases of consensual unprotected sexual intercourse with someone you are unsure of genotype status.
SCD trait is diagnosed via laboratory investigations on genotypes, get tested today, know your genotype status.
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