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DAY ONE: SICKLE CELL AWARENESS CAMPAIGN

What is sickle cell disease?

Sickle cell disease (SCD) is a group of inherited red blood cell disorders. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. In someone who has SCD, the red blood cells become hard and sticky and look like a C-shaped farm tool called a “sickle”. The sickle cells die early, which causes a constant shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious problems such infection, acute chest syndrome and stroke.

Sickle cell trait (SCT) is not a disease, but means that a person has inherited the sickle cell gene from one of his or her parents. People with SCT usually do not have any of the symptoms of SCD and live a normal life, but they can pass the sickle cell gene on to their children.

 • When both parents have SCT, they have a 25% chance of having a child with SCD with every pregnancy.

 • When only one of the parent has SCT, they have a 50% chance of having a child with SCT with every pregnancy.

What causes sickle cell disease?

The cause is inherited (genetic). It is a change in the genes which tell the body how to make an important protein called haemoglobin. To get SCD, you need to have two altered haemoglobin genes, one from each parent. If you only have one of these genes, you will have sickle cell trait, which is very much milder.

The most common type of SCD occurs where you have two sickle cell genes (sickle cell anaemia). The medical shorthand for this is haemoglobin SS (or HbSS). Other types of SCD involve one sickle cell gene plus another abnormal haemoglobin gene of a different type. These include: haemoglobin SC; haemoglobin S/beta thalassaemia; haemoglobin S/Lepore; haemoglobin SO Arab.

The symptoms, diagnosis and treatment are similar for all the sickle cell conditions.

How do the sickle cell genes cause SCD?

Sickle cell genes affect the production of an important chemical called haemoglobin. Haemoglobin is located in red blood cells, which are part of the blood. Haemoglobin carries oxygen and gives blood its red colour.

The sickle cell genes make the body produce abnormal haemoglobin called HbS. (Normal haemoglobin is called HbA.) HbS behaves differently from HbA. Under certain conditions, HbS makes the red blood cells change shape – instead of the normal doughnut shape, they become sickle-shaped, like a crescent moon. This is called sickling. Conditions which trigger sickling are cold, infection, lack of fluid in the body (dehydration), low oxygen, and acid (acid is produced in hard physical exercise).

What happens to the sickle cells?

The sickle cells containing mostly HbS are harder and less flexible than normal red blood cells. So, they can get stuck in small blood vessels and block them. This can happen quite suddenly, causing various symptoms which are known as a sickle cell crisis. Repeated blockages can also lead to complications occurring.

The sickle cells are destroyed more easily than normal red blood cells. This means that people with SCD tend to be short of red blood cells and have a moderate and persistent anaemia. A moderate anaemia is not usually a problem because the HbS (the different haemoglobin) carries oxygen well, and the body can compensate. However, you may get bouts of severe anaemia for various reasons. For example, if too much blood goes to the spleen, if too many red blood cells break down at the same time, or due to certain infections which stop blood cells being made. A severe anaemia can make you very ill.

How is sickle cell disease diagnosed?

The diagnosis is made by a blood test. The blood sample is analysed to see what type of haemoglobin is present in the blood (using a test called haemoglobin electrophoresis or other methods). This can diagnose most cases of sickle cell trait and sickle cell disease (SCD). Sometimes, the result is unclear and extra tests such as DNA (genetic) tests are needed.

The diagnosis is made by a blood test. The blood sample is analysed to see what type of haemoglobin is present in the blood.

What is a Genotype?

A genotype is the entire genetic constitution of an individual, i.e. the genetic makeup of an organism or group of organisms with reference to a single trait, set of traits, or an entire complex of traits. In a nutshell: your genotype is your complete heritable genetic identity; the sum total of genes transmitted from parent to offspring.

There are four hemoglobin genotypes (hemoglobin pairs/formations) in humans: AA, AS, SS and AC (uncommon). SS and AC are the abnormal genotypes or the sickle cells. We all have a specific pair of these hemoglobin in our blood which we inherited from both parents.

Should I and my partner have Genotype tests before starting a relationship or family?

Yes! Knowing one’s hemoglobin genotype before choosing a life partner is important because there may be compatibility issues which could have devastating effects when it comes to conception.

Individuals with sickle cells experience severe pains in body parts where oxygen flow is compromised due to blockage in the blood vessels.

• AA can marry anybody
• AS is better off with AA
• AS and AS, AS and AC are too risky
• Two sickle cells = avoid conception

Sickle cell disease symptoms

Symptoms of SCD come and go. Usually there are bouts episodes of symptoms but, in between episodes, you feel well. The reason that symptoms come and go is that the red blood cells can behave normally for much of the time – but if something makes too many of them sickle, the sickle cells cause symptoms. If there are severe and sudden symptoms due to sickling, this is called a sickle cell crisis.

There is a lot of individual variation in symptoms – how many and how often you get them. Some people with SCD have frequent symptoms, while others have very few and their SCD is hardly noticeable. For most people, symptoms are somewhere in between these two extremes. Most people with SCD have a few episodes of sickle cell crisis each year.

Symptoms usually begin after a few months of age. (Before that age, the baby has a different haemoglobin, called fetal haemoglobin, which is not affected by the sickle cell gene.)

The various symptoms that can occur if you have SCD include:

Episodes of pain

These are also called a pain crisis or a vaso-occlusive crisis. They occur when sickle cells block small blood vessels in bones, which causes pain. Pain usually occurs in bones and joints. The pain can vary from mild to severe, and may come on suddenly.

A common symptom in babies and young children is small bones in the fingers and toes becoming swollen and painful – this is known as dactylitis.

Episodes of tummy (abdominal) pain can occur if sickle cells block blood vessels in your abdomen.

Acute chest syndrome

This occurs when there are blocked blood vessels in the lungs and can sometimes occur with a lung infection.

The symptoms can include chest pain, high temperature (fever) and shortness of breath. Babies and young children may have more vague symptoms and look generally unwell, be lacking in energy (lethargic), be restless or have fast breathing. Acute chest syndrome is very serious and, if it is suspected, you should be treated urgently in hospital.

Acute chest syndrome can start a few days after a painful sickle crisis. It is most common in women who are pregnant or who have recently had a baby.

Infections

People with SCD are more prone to severe infections, particularly from certain types of germs (bacteria), which can cause pneumonia, meningitis, septicaemia or bone infections. (These include the pneumococcal, Haemophilus influenzae type b and meningococcal bacteria, and salmonella bacteria which can infect bones.) Symptoms of infection include fever, feeling generally ill, and pain in the affected part of the body.

Children with SCD have a high risk of getting severe or life-threatening infections. It is important to see a doctor quickly if you suspect an infection or feel unwell.

Sickle cell anaemia

Anaemia is a lack of haemoglobin in the blood. As mentioned above, people with SCD will usually have a moderate anaemia, which does not usually cause problems. However, at times, people with SCD can get a severe anaemia, which can be serious. It may come on very suddenly or more gradually. Urgent treatment may be needed.

Symptoms of severe anaemia are:

• Feeling tired, faint, short of breath, dizziness, feeling sick (nausea) or having fast breathing – worse with physical activity.
• Babies and small children may be lethargic, not feeding much or generally unwell.
• A pale skin colour (easiest to see in the lips, tongue, fingernails or eyelids).
• With children, the spleen sometimes enlarges quickly and causes sudden severe anaemia. The enlarged spleen is in the abdomen and can be felt. Parents may be shown how to feel their child’s spleen. If the spleen enlarges quickly, it is a sign that urgent treatment is needed.

TO BE CONTINUED…

Written By: Akpus Adgidzi Immanuel

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