Sickle Cell Anaemia - an endemic disease

in #stemng6 years ago


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Sickle cell anaemia is a genetic disease of the red blood cells, it is being inherited from parents to offspring. The red blood cells contains an oxygen carrying organelle (haemoglobin) which is mainly affected in cases of sickle cell Anaemia. The haemoglobin becomes stiff in the red blood cells, this make a great change in the shape of the red blood cells, which are meant to be disc shaped but turns to a sickle or crescent shape.
The prevalence rate of the deadly disease trait is about 10-45% in Africa and about 20-30% in Nigeria which a population of about 170 million people and 2-3% of the population are suffering from the disease.

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Normally, the red blood cells are flexible and can easily move through smaller blood vessels, but the anaemia prevents this from happening due to the irregular shape. Sickle cell anaemia also prevents haemoglobin from delivering oxygen to all parts of the body.
As I said earlier , sickle cell anaemia is a genetic disease where you need two copies of the gene but for it to occur as in SS genotype, while someone with just one copy of the gene is said to have sickle cell trait as in the AS genotype.

SYMPTOMS OF SICKLE CELL ANAEMIA

JAUNDICE

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This is the yellowing of the skin and white of the eyes. This occurs when there is too much bilirubin in the blood.
ANAEMIA

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This is when red blood cells die before completing their lifecycle which is 100-120days. This causes a great reduction in red blood cells which leaves the body without enough energy, thereby causing a lot of fatigue.
SEVERAL OCCURRENCE OF PAIN

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This occurs when the red blood cells are stuck in the smaller blood vessels and there could be pain occurrence in the chest, abdomen, joints and bones. This could result in the severe damage of bones in the body.
PAINFUL SWEELING OF HANDS AND FEETS

[source}(https://www.google.com.ng/url?sa=i&source=images&cd=&cad=rja&uact=8&ved=2ahUKEwjomc3l9ejeAhWG34UKHd_iDU4QjRx6BAgBEAU&url=https%3A%2F%2Fwww.wisegeek.com%2Fwhat-causes-foot-and-ankle-swelling.htm&psig=AOvVaw1JpG-UeZHWCdxfUcSXgcnO&ust=1543007686610634)
This happens because the smaller blood vessels are blocked with sickled red blood cells.
INFECTIONS

[source}(https://www.google.com.ng/url?sa=i&source=images&cd=&cad=rja&uact=8&ved=2ahUKEwjEiLqN9ujeAhVF2xoKHb5BDaQQjRx6BAgBEAU&url=https%3A%2F%2Fsites.google.com%2Fsite%2Fscarletfeverfacts%2Fwhat-is&psig=AOvVaw3Ff8mO7f_WfAv2ah7VHVsC&ust=1543007758603590)
This is a particular occurrence that comes up with sickle cell anaemic patients as they tend to be more susceptible to illness than a healthy person.
DELAYED GROWTH

[source}(https://www.google.com.ng/url?sa=i&source=images&cd=&cad=rja&uact=8&ved=2ahUKEwiGjeqJ9-jeAhUCKBoKHVffCPAQjRx6BAgBEAU&url=http%3A%2F%2Fbiology.kenyon.edu%2Fslonc%2Fgene-web%2Fsickle_cell_project%2FSocialAspects.html&psig=AOvVaw0T5pu-5Pu6wOcibD9tGUxM&ust=1543007974818237)
This happens due to the fact that there is not enough oxygen to supply the body’s growth system. This makes people look smaller in shape for their age and also part of the body tends to display this characteristics.

DIAGNOSIS AND CURE

The main diagnosis for sickle cell anaemia is called ELECTROPHORESIS which involves Abnormal haemoglobin to be detected, this a form of gel electrophoresis on which the various types of haemoglobin move at different speeds. This then makes it easy to detect Sickle cell haemoglobin (HgbS) and haemoglobin C with sickling (HgbSC) which are the two most common forms.

[source}(https://www.google.com.ng/url?sa=i&source=images&cd=&cad=rja&uact=8&ved=2ahUKEwiZsZzA9-jeAhXR34UKHSkABTgQjRx6BAgBEAU&url=https%3A%2F%2Fslideplayer.com%2Fslide%2F4178471%2F&psig=AOvVaw25cs8rec93NB5n8SW0IlYn&ust=1543008156177071)

The only cure for sickle cell anaemia is the transplantation of bone marrow or stem cells as red blood cells are being produced from the aforementioned areas.


[source}(https://www.google.com.ng/url?sa=i&source=images&cd=&ved=2ahUKEwir8Jnm9-jeAhVSzBoKHUqEAg0QjRx6BAgBEAU&url=%2Furl%3Fsa%3Di%26source%3Dimages%26cd%3D%26cad%3Drja%26uact%3D8%26ved%3D%26url%3Dhttps%253A%252F%252Flymphoma-action.org.uk%252Fabout-lymphoma-treatment-lymphoma%252Fstem-cell-transplants%26psig%3DAOvVaw1L2MyEyyaRIXkvQl7gPX62%26ust%3D1543008223644274&psig=AOvVaw1L2MyEyyaRIXkvQl7gPX62&ust=1543008223644274)

People are advised to know their genotype and blood group before getting married as this can help curb the situation of sickle cell anaemia. Do not move on with the belief that you can only have one sickle celled child if you and your partner are both with the AS genotype as this is just a speculation for research study, the gene can manifest in any of the children born and this would greatly affect the family.

[source}(https://www.google.com.ng/url?sa=i&source=imgres&cd=&cad=rja&uact=8&ved=2ahUKEwjH0L7t9ujeAhUOWBoKHet2CfkQjRx6BAgBEAU&url=https%3A%2F%2Fwww.rimed.com%2Fclinical-applications%2Fclinical-applications-sickle-cell-disease-scd&psig=AOvVaw0gfoEaGhlTa84bZoKn-_oq&ust=1543007992043485)

The above image is just an illustration showing the fate of the offspring born from both AS genotypic parents, this should not be taken as a belief but as a speculation for studies.

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