The Doom Of Sickle Cell Disease

Most of us youth these days are driven by love and passion. We are more interested in nothing but the “I love you’s” and the “I can’t live without you`s” rather than thinking of the consequences of our love. A lot of us think that love can overcome the doom of sickle cell disease. We believe the fallacy that our love and prayer can change “all things” and turn it into our favour. Well, that may be true but notwithstanding the fact that it is also important to keep our future in mind. We also have to keep the health and even the life of our kids to come also in mind because sickle cell could be very deadly. Mostly we think that sickle cell can be compared to a headache that you have to just take some pain medication and you are good to go. On the contrary_, the term sickle cell disease encompasses a group of genetic conditions which results from the inheritance of the sickle cell gene either homozygously or as a double heterozygote with another interacting gene. The sickle cell disease is a hemoglobinopathy that stems from the mutation of the β-goblin gene that creates sickle cell hemoglobin HbS. It is characterized by red blood cells that assume an abnormal, rigid, sickle shape and they are unable to carry enough oxygen throughout the body. The spectrum of resulting conditions is therefore influenced by the geography of individual hemoglobin genes, but in most people, the commonest genotype at birth is homozygous sickle cell (HbSS) disease. Because this genotype generally manifests greater mortality, the relative proportion of sickle cell genotypes is influenced by age as well as the geographical distribution of individual genes.

Sickle cell disease affects approximately 100,000 Americans and occurs among about 1 out of every 365 Black or African-American births. It also occurs among about 1 out of every 16,300 Hispanic-American births. About 1 in 13 Black or African-American babies is born with sickle cell trait.

In a normal red blood cell, the amino acid glutamate is present. Glutamate has a charge and therefore has the ability to produce repulsive forces that results in the normal shape of the RBCs. In sickle cell disease, the amino acid glutamate is replaced with valine. Valine is an amino acid that has no charge therefore cannot produce the repulsive forces needed for the normal shape of the RBC. This leads to the sickle shape of the RBCs.

INHERITANCE OF SICKLE DISEASE
The inheritance of an abnormal sickle cell gene (HbS) from one parent and a normal gene (HbA) from the other parent results in the sickle cell trait. Persons with the sickle cell trait show a relative resistance to falciparum malaria and are less likely to get the disease. They mostly run lower parasite counts due to the presence of the HbS gene. The HbS gene as compared to the HbA gene has a limited amount of time for haemolysis. This means that the HbS is rapidly haemolysed. The abnormal haemolysis of the HbS gene is what shields persons with the trait since the malaria parasite lives in the RBCs and they are being haemolysed rapidly. They cannot establish their colonies and so they die.

Also, persons with the sickle cell trait do not present with or present with less severe attacks as compared with those who have the HbSS gene. The inheritance of the abnormal sickle cell gene (HbS) from one parent and another abnormal gene (HbS) from the other parent results in Sickle Cell Disease (HbSS). People with SCD mostly present with Sickle Cell Anaemia. Sickle cell anaemia is an inherited form of anaemia in which there aren't enough healthy red blood cells to carry adequate oxygen throughout your body.

SIGNS AND SYMPTOMS OF SICKLE CELL DISEASE
Anaemia: Sickle-shaped red blood cells are rapidly haemolysed leaving the individual without enough red blood cells. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells (anaemia). Without enough red blood cells, the body cannot get the oxygen it needs to feel energized, causing fatigue.

Jaundice: This is a common signs of sickle cell disease. Sickle cells do not live as long as normal red blood cells. Haemolysed RBCs and taken into the liver for the production of bilirubin. The rapid haemolysis in sickle cell disease leads to the excess production of bilirubin. Bilirubin can sip into the blood for systemic circulation. The circulating bilirubin that gets to the sclera is what causes the yellowish discolouration called jaundice.

Priapism: Priapism attack is a sickle cell crisis that is localised to the penis. The sickled red blood cells can cause a disruption in the normal flow of blood within the penis by blocking the vessels. The blockage causes blood trapping which keeps the penis in an erected state. If the condition is not treated immediately, it can lead to scarring and permanent erectile dysfunction.

Periodic episodes of pain: Periodic episodes of pain also called pain crises develop when sickle-shaped red blood cells block blood flow through tiny blood vessels to the chest, abdomen and joints. Pain can also occur in the bones leading to joint pains. The pain varies in intensity and can last for a few hours to a few weeks. Some people have only a few pain episodes while others present with a dozen or more in a year. If a crisis is severe enough, the individual might need to be hospitalized. Some adolescents and adults with sickle cell anaemia also have chronic pain, which can result from bone and joint damage, ulcers and other causes.

Painful swelling of hands and feet: The swelling is caused by sickle-shaped red blood cells blocking blood flow to the hands and feet. This leads to an increase in capillary hydrostatic pressure leading to the movement of fluid from the vessels into the interstitial space causing oedema.

Frequent infections: Sickle cell can damage the organ that fights infection (spleen), making the individual more vulnerable to infectious diseases. The spleen is an important organ that plays multiple supporting roles in the body. Old RBCs are recycled in the spleen. Platelet and white blood cells are also stored there. Due to the rapid haemolysis of the sickle-shaped cells, the spleen has to do a lot of work in mopping up the haemolysed RBCs. The excess stress put on the spleen leads to muscle fatigue and a reduction in its ability to perform effectively.

Delayed growth: Red blood cells provide the body with the oxygen and nutrients needed for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenager.

Vision problems: Tiny blood vessels that supply the eyes may become plugged with sickle cells. This can damage the retina (the portion of the eye that processes visual images) leading to vision problems.

Stroke: people with sickle cell could present with stroke which occurs as a result of the sickle shaped blood blocking a vessel that supplies a part of the brain.

FACTORS THAT CAN PRECIPITATE SICKLE CELL CRISIS

• Infections
• Low oxygen tension
• Concomitant medical conditions
• Dehydration
• Acidosis
• Extreme physical activity
• Physical or psychological stress
• Alcohol
• Pregnancy
• Cold weather

Mostly sickle cell patients are advised on these precipitating factors and are encouraged to try as much as possible to protect themselves from if not all most of them.

In conclusion, it is important to note that sickle cell disease has affected most marriages. It has wrecked people’s lives and made things really difficult for them. The worst of the outcomes of sickle cell disease is death. I therefore entreat us that before you go ahead in that relationship, it is very important to know your sickle cell status as well as you partner’s so that you don’t risk it. Do not take chances because your future depends on it.

PEGGY EWURAMA BENTIL
PHYSICIAN ASSISTANT STUDENT (LEVEL 200)
UNIVERSITY OF CAPE COAST