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A Life Beyond Sickle Cell Anemia

INTRODUCTION

Long in the ages, one of the major concern of humans is to live a stable and undisturbed life. Human health as it were, had been a major factor in enhancing sustainable development within the terrain of the environment they live and beyond. Everyone has potential to make a living for him/herself based on the availability of resources he can access but the strength and energy to make this a reality is one point we must carefully study.

There are many known diseases attached to disrupt the journey of humans both expectedly and unexpectedly. Some of them can are inherited and some are contracted. Some can be controlled, and some cannot. In either way, the long- term survival technique humans have employed towards attaining their life given goal is to manage their health diligently and carefully.

Sickle cell anemia, as it can be regarded as an historical genetic disease with some conditions arising from the pathology results from the sickle cell gene either hemizygously or as a double heterozygote with another interacting gene. This condition is a result of the Geographical influence it has on Genes. The spectrum variation has it effect on hemoglobin. This results in the shortening of age as well as geographical implications that either be inherited or transmitted. Inheritance of the abnormal sickle cell gene from one parent and a gene for normal hemoglobin from the other parent results in the sickle cell trait.

HISTORICAL FACTS

It is widely believed that every disease has its origin, and it is its first occurrence. Sickle cell anemia is not an exemption. It was recorded that sickle cell disease had been present in Africa for over Five thousand years and had been called various name in various languages. The people in Africa experienced it in different dimensions and they could not resolve in a definite term for it.

The documentation of sickle cell as a disease was first clearly noticed and analyzed in 1910 by a dental student named “James Herrick” who presented with pulmonary symptoms. He described an anemia characterized by bizarre, sickle-shaped cells and published it to be a theory. Henrick publication was left with many unanswered questions and some uncertainties. As time moves on, the role of “deoxygenation” which was an especially important concept in both the diagnosis and treatment of the disease was discovered in the 1920’s by Hahn and Gillespie.

Furthermore, the hereditary nature of the disease was suspected but not demonstrated until 1949 by Dr. James V. This demonstration led to the conclusion about the detailed fact about the disease. Many doctors who had the theory but not the experiment had issues in treating or managing their patient until Dr James. V came on board. Many other scientists produced various new inventory measures and control that are being practiced and effective up till date. But some are being disregarded and dumped.

 THE EMINENCE OF SICKLE CELL

Sickle cell Anemia is widespread in Africa, Some part of Asia and Some part of North America. At its discovery in 1910, it was said to have been common, especially in West Africa. The countries like Senegal, Benin and Central Africa Republic have the Highest number of cases when sickle cell Anemia was discovered. Sickle cell trait also was very prominent in India and Saudi Arabia. It was also reported that Jamaica has the highest number of cases. The Hemoglobin trait is believed to be a relatively recent mutation limited to West Africa where it occurs at high frequencies due to the high number of cases which is approximately(>20%) in central Ghana and Burkina Faso, in only 2% in Nigeria, and does not occur, except in peoples of West African origin, in East and Central Africa Republic.

In Saudi Arabia, Sickle cell Anemia has been reported to be widespread to its peak, with the highest prominence in the Eastern province. The trait frequency is as high as 40% in the Eastern province. Also, in India, the trait occurs most commonly among the tribal peoples in central India and less prominence in the northern part of India.

CAUSES OF SICKLE CELL

Over the years, the cause of sickle cell Anemia is what has proven to be a headache for generations. According to James Henrick Discovery, Sickle cell disease comprises a group of rare genetic disorders in which red blood cells adopt a sickle-like shape and die prematurely, resulting in fewer red blood cells available to carry oxygen throughout the body and so it was concluded that the disease is only hereditary and it is mainly from the variation in the Hemoglobin trait. Nevertheless, the theory was not satisfactory duly because the source or origin could not be traced out. As regards that, Further investigations were conducted and at the end, THREE major cause of sickle cell Anemia have been discovered and proven to be true.

1. GENETICS

Genetic mutation is the most rampant cause of Sickle Anemia. This is caused by alteration in the beta-globin (HBB) gene that lead to the formation of an abnormal version of a subunit of hemoglobin, the protein responsible for carrying oxygen in red blood cells. This altered version of the protein is known as hemoglobin S. There is other known variant which are of hemoglobin, and they are A (the most common kind found in adult that are in perfect state of health), A2, C, D, E, and F

This type of effect cannot be easily eradicated and nothing much can be done to hinder it. It results from a change in a single amino acid, and this alter the normal function of the red blood cells and allow the protein to clump together. Also, the mutation in hemoglobin S results in the production of other inoperative versions of Hemoglobin, such as Hemoglobin C and E. Hemoglobin variant is not controlled or affected by Geographical influence or any type of physical circumstances.

2.  INHERITANCE

Sickle cell disease is considered by the earlier scientists as a disease that can be transferred from one generation to another generation through the birth process. It is an autosomal recessive disorder, meaning that a person must receive two defective gene copies; one from each parent to develop the condition. The disease cannot be transmitted from person to person and is not caused by anything that parents might have done before or during pregnancy because it is strictly resided in the genetic make-up of the parent.

For people living with the disease, it is explained that at least one of the inherited Gene copies contains instructions for making Hemoglobin S. When an individual has both inherited Gene copies, it is concluded that the individual has Sickle cell Anemia: which is the most common and often the most severe form of sickle cell disease.

Sickle cell trait can be said to be the combination of a people with a single copy of the variant and another copy of the healthy variant. These individuals usually do not show any symptoms of sickle cells but can still pass the S variant on to their biological children.

3. AFFECTED POPULATIONS

This is a rare cause of sickle cell disease, but it is very rapid in some areas through this means. It is very possible that the trait can be amongst an ethnic background and the transmission amidst this set of people can distinguish them from the other population. This type of source is clear in Africa, Some part of Asia, Middle Eastern, and Indian ancestry.

EFFECTS OF SICKLE CELL ANAEMIA

The sickle cell anemia has a long- term effect on an individual even from childbirth. It can be easily noticed in a person and the effect can be categorized from what can be seen(physical) and the one that one cannot see(internal). The internal ones are the misappropriation of blood movement and functions.

INTERNAL EFFECT

Sickle cells are one of those diseases that block blood flow to organs and deprive the affected organs of blood and oxygen. This is called DEOXYGENATION which was discovered in the 1920’s by Hahn and Gillespie. In sickle cell anemia, blood is also chronically low in oxygen. Also, in their travelling process in the small blood vessels, they cling and clog the blood flow. This can cause pain and other serious problems such infection, acute chest syndrome and stroke. This lack of oxygen-rich blood can damage nerves and organs, including kidneys, liver, and spleen, and can be fatal and cause early death to the individual.

PHYSICAL EFFECT

It is widely understood that the inappropriateness in the internal blood system will always have its own cause and effect in the physical body. The most widely known is Stunted Growth of the individual. But sickle cell anemia effect is much more than that. There is other effect it has on the body and the examples are as follows:

• Hearing loss

• Deficiency in vision or sight

• Acute chest syndrome

• Persistent and painful erection

• leg ulcers

• Delayed sexual maturity

• Gallstones

• Stroke

• Adverse mental effect such as depression and anxiety

These are other effect can be seen in an individual even from birth and they occur in various stages and phases. It is also understood that this effect is very rampant among African Belt, and this has caused so many untimely deaths amidst the age 5 to Age 15 most especially in Senegal, Central Africa Republic, and Equatorial Guinea.

TREATMENT OR CURE OF SICKLE CELL ANAEMIA

Sickle cell anemia as widely known in the world had been concluded to be a disease that cannot be cured or treated easily. James Henrick who discovered it did not give any detailed information about how to cure the disease. Over the years, Scientists and Doctors all over the world have performed various experiments to see what can be done to avert the disease. The only solution that came about in the 20th Century was termed to be “Gene or stem cell Transplant”. Because of the dangers associated with a bone marrow transplant, including death, the procedure is recommended only for children, who have significant symptoms and complications of sickle cell anemia. According to W.H.O, A stem cell transplant is the only known cure for sickle cell anemia. Record shows that only 15% of the people with sickle cell anemia had undergone this surgery exercise and only approximately 9% was said to be successful while the remaining percent lead to death and further Gene complications.

Scientists even up till date have not produced a better or more secure treatment for the disease. However, several modifications were made to manage the disease for a longer period. Some of these are device strategies like “Patient- controlled analgesia”, Medications such as Narcotic, Chemotherapy, Voxelotor (Oxbryta), vitamin and Blood transfusion.

A Medical practitioner in Senegal said and I quote ” The level of discrepancy in the level of reduction in sickle cell cases in the country is due to the ineffective and manipulative use of Medications from different hospitals across the country”. This quote was made in 2013 when it was reported that sickle cell cases have drastically reduced in Senegal. He claimed that the medication prevents or reduces the disease’s long-term effect but has never eradicated it.

This claim is to enlighten us that Sickle cell anemia cannot be easily cured or treated but can still be managed for a longer period. It also tells that the severity of the disease is restricted to a particular location and regarding that, it is exceedingly difficult to control.

ENHANCING YOUR LIFESTYLE WITH SICKLE CELL ANAEMIA

This, I consider as the core of this article. Sickle cell anemia as a disease is never a death sentence to anyone that has it. It has been proven severally that it can be managed for a long term. A Radio vascular Surgeon in South Africa said, and I quote “Living a healthy life is not based on the perfect state of the internal organ of an individual but rapt understanding of how to manage one’s body system”. It is imperative for us to be aware that living with the disease is not a license to be a victim of its symptoms or adverse.

A clinic in Germany wrote, “Management of sickle cell anemia is usually aimed at avoiding pain episodes, relieving symptoms and preventing complications. Treatments might include medications and blood transfusions. For some children and teenagers, a transplant of the stem cell might cure the disease. There are also many measures that are taken although relative to any individual having the disease. Such measures include Avoiding strenuous exercises or work, eating a lot of fruits, taking a lot of water and many others.

CONCLUSION

“The end of the road might be the entrance to a new beginning only if there’s light to reveal the new path” – Albert Greene. Sickle cell anemia has no right to stop you from living or depriving you of your potential. Manage it well, live above it and achieve that dream.


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