Pearl Ama Amoateng is 24 years old and an E-Business Officer at Quality Insurance Ghana. Before the age of 13, Pearl was constantly falling ill but the doctors who were taking care of her did not know the “genesis” of her illness. She was constantly falling ill and that led a new doctor to recommend a test known as HB electrophoresis and she was diagnosed of being a Sickle Cell Patient with genotype SS.
The Sickle Cell Disease (SCD) is an inherited blood disorder that can cause stroke, pain, infections and other such symptoms.
Pearl’s Sickle Cell Diagnosis
At the time, her mother was not aware of anyone else who had SCD. The diagnosis left Pearl’s mother frightened and panicked as she did not know much about SCD and was afraid she would not know how to take care of her properly.
Challenges of SCD
Pearl says she was, “frequently get[ting] infections, pains in the chest, back arms, knees and legs, fatigue and sometimes swelling in my hands and feet.” She experienced one devastating medical complication after another.
As such, throughout her early childhood she missed school frequently to go to the hospital as a result of the severity of the pains afflicting her.
SCD affects other areas of our lives.
“It is expensive to live with the condition and mentally exhausting. The next minute you are healthy and the next you are sick,” she says.
Finding Support and Giving Back to the Society
“I volunteer for a sickle cell group known as Sickle Life. I opted to train and mentor teenagers who live with the condition and the stigma we face sometimes. It brings me so much fulfilment because when I was their age I had no ‘Sickle Cell Warrior’ to look up to and to help me understand what the disease is about and how I could manage it.”
Pearl reiterates the need for society to be educated and informed on and about SCD in order to make informed decisions such as involving choosing one’s life partner, the diet to follow and the need to take folic acid once daily.
“I become elated when I get messages from friends and family on social media such as Facebook, Twitter and Instagram appreciating me for educating them and insisting they go check their genotype,” Pearl admits.
The Professional View Point
Dr Orish Verner, Senior lecturer at the School of Medicine, Department of Microbiology and Immunology and a Primary Care Physician of the Sickle Cell Clinic at the Ho Teaching Hospital gives us an in-depth education of what Genotype and SCD is all about hereinafter.
What is Genotype?
Genotype is the genetic identity or characteristics of every individual inherited from their parents (both mum and dad). This inheritance is arranged in 23 pairs of chromosomes.
In this chromosome there are genes buried in them and usually carry genetic materials that make people what they are.
These 23 pairs of genes are responsible for most of the features humans have, height, eye colour, hairs, the way one talks and others. These are genetic influences from the chromosomes.
Chromosome 11 and 16 are responsible for the production of beta and alpha (protein) chains haemoglobin structure respectively.
What is SCD?
Sickle cell is both a blood and genetic disease because it affects the Red Blood Cell (RBC), i.e. the haemoglobin structure of the RBC and it is a genetic disease as a result of mutation of the genes.
RBCs usually look like round biconcave discs, but in sickle cell disease, they’re shaped like crescent moons, or a farm tool known as a sickle.
These sickle shaped cells get stuck together easily, and block off small blood vessels. When blood cannot get to where it should, it can then lead to pain and organ damage. These times of pains are known as ‘Crises’.
Importance of REST to an SCD patient
Some sickle cell patients can develop some crises when they stress themselves too much, therefore the need to advise them not to put much pressure on themselves.
Yes, they can play football or other sports if they want to but they should be aware of their limit.
Impressions should not be created that people living with sickle cell disease cannot work or involve themselves in any physical activity, however it is equally important that they are made aware that they need to do to be careful not to exert pressure on themselves and also to know their limit.
The need to Drink Lots of Water
To Sickle Cell Patients water is very important, in fact one of the major reasons patients are advised to rest is to avoid dehydration.
The Red Blood Cell (RBC) carries oxygen in the vessels. Oxygen is very important in the human body.
Every cell in the human body needs oxygen to survive. For the RBC to deliver oxygen to the smallest tissue in the human body, they have the capacity to pass through the tiny capillaries to supply blood to the last tissue.
The RBC is able to achieve this due to the flexibility of their shape. Since sickle cell patients, do not have such flexibility it gets stuck and gathers at a specific place, they cannot supply the body with oxygen, tissues begin to die and that is when patients scream in pain. This is because oxygen is not supplied to the organs especially to the bones leading to excruciating pains.
This situation is precipitated or made worse when they do not have enough water in their body, since water prevents stagnation of the RBC.
When not managed properly SCD can cause:
Stroke: Sickle-shaped cells can block small blood vessels in the brain resulting in decreased blood supply to brain, causing stroke. Signs of such can include headache, seizure, weakness of the arms and legs, speech problems, a facial muscles weakness, or loss of consciousness.
Aplastic crisis: This is when the body temporarily does not make enough red blood cells, and can cause severe anemia. Signs include paleness, extreme tiredness, and a fast heartbeat.
Infection: People with sickle cell disease are at risk of some bacterial infections. It’s important to watch for fevers of 38°C or higher, which can be signs of an infection.
Acute chest syndrome: Caused by inflammation, infection, and blockage of small blood vessels of the lung. Signs include chest pain, coughing, trouble breathing, and fever.
Priapism: Men with sickle cell disease can have painful, long-lasting erections. If it is not treated quickly it can cause damage leading to problems with getting erections later on.
Why the Need for Supplements?
Persons with genotype AA or AS, have their RBC last 80-120 days before another is formed. This is because it gets old, the shape gets lost and the spleen of the human body seizes it and destroys it.
Luckily, the bone marrow produces another one.
With Sickle cell patients, since they have excessive destruction of the RBC, the bone marrow needs to be producing constantly to replenish the one that is lost, therefore the need to take Folic acid supplements once daily to help them make new red blood cells. Many patients with severe sickle cell disease may suffer from unrecognized vitamin B12 deficiency, therefore the need to take Vitamin B12.
Both supplements are needed for development and maturation of the RBC.
It is in special situation that iron is considered, because many sickle cell patients do not lack iron.
The above is a guide to help you in choosing suitable marriage partners in order to conceive healthy babies.
Remember what Pearl said? “It is expensive to live with the [SCD] condition and mentally exhausting. The next minute you are healthy and the next you are sick.” It is everyone’s responsibility to check their genotype to make informed decisions.
Author: Ivy Yemoteley Anum
Journalist and Writer