Sickle cell anaemia: The Pain, The Pallor and The Prejudices.
‘Take away this pain please, with anything; morphine, pethidine, everything! Pleeeeaaaassseee’
It is a typical A&E setting during my junior doctor years, the alarm bells starts ringing; here s/he is, another drug misuser or seeker trying to get opioids off the system… No, Not! It is a genuine need for an unbearable yet indescribable pain. It is real, It is devastating, not only causing untold physical, mental and psychological misery to the person but also greatly negatively impacting the person’s family and friends.
This condition is mainly prevalent in the black communities so, during my medical training & practice in Nigeria, one understood the difficulties and could see the impact. However, in my training and practice in the UK, it became pretty obvious this condition is not well understood neither is it given as much attention in the curriculum, in training, in research or in everyday practice.
Demographics.
Sickle cell disease (SCD) affects millions of people throughout the world and is particularly common among those whose ancestors came from sub-Saharan Africa; Spanish-speaking regions in the Western Hemisphere (South America, the Caribbean, and Central America); Saudi Arabia; India; and Mediterranean countries such as Turkey, Greece, and Italy.
It is rare in people of North European origin.
What then is Sickle cell anaemia?
Sickle cell disease is the name for a group of inherited health conditions that affect red blood cells. The most serious type is called sickle cell anaemia.
Sickle cell anaemia is an inherited red blood cell disorder in which there aren’t enough healthy red blood cells to carry oxygen throughout the body. Normally, the flexible, round red blood cells move easily through blood vessels. In sickle cell anaemia, the red blood cells are shaped like sickles or crescent moons. These rigid, sticky cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.
Sickle cell disease is a serious and lifelong health condition, although treatment can help manage many of the symptoms.
Sickle Cell Anaemia
What causes sickle cell disease?
Sickle cell disease is caused by a gene that affects how red blood cells develop.
If both parents have the gene, there’s a minimum of 1 in 4 chance of each child they have being born with sickle cell disease.
The child’s parents often will not have sickle cell disease themselves and they’re only carriers of the sickle cell trait (gene).
Transmission of Sickle Cell Disease
Symptoms of sickle cell disease
People born with sickle cell disease tend to have problems from early childhood, although some children have few symptoms and lead normal lives most of the time.
The main symptoms of sickle cell disease are:
- Painful episodes called sickle cell crises, which can be very severe and last up to a week.
- An increased risk of serious infections.
- Anaemia (where red blood cells cannot carry enough oxygen around the body), which can cause tiredness and shortness of breath.
- Some people also experience other problems, such as delayed growth, stroke, and chest pain and lung problems, delayed growth during childhood and delayed puberty.
- Tummy pain , jaundice, bone and joint pain
- A persistent and painful erection of the penis (priapism )which can sometimes last several hours
- Painful limb swellings and leg ulcers.
- Swelling of the spleen, which can cause shortness of breath, a rapid heartbeat, tummy pain, a swollen tummy.
- Eyesight problems, such as blurred or patchy vision, visual loss.
- High blood pressure.
- Kidney or urinary problems, including swelling of the spleen, which can cause shortness of breath, a rapid heartbeat, tummy pain, a swollen tummy and anaemia
- eyesight problems, such as blurred or patchy vision, and occasionally sudden vision loss
- high blood pressure
- kidney or urinary problems, including blood in urine and bedwetting
Treatments for sickle cell disease
People with sickle cell disease need treatment throughout their lives. This is usually delivered by different health professionals in a specialist sickle cell center.
It is important for people with sickle cell disease to look after their own health using self-care measures such as, avoiding triggers and managing pain. General treatment for sickle cell disease are: drinking plenty of fluids and keeping warm, taking painkillers, daily antibiotics and regular vaccinations, medications to reduce symptoms, emergency blood transfusion if severe anaemia develops.
The only cure for sickle cell disease is a stem cell or bone marrow transplant, but they are not done very often because of the risks involved and difficulties around finding a suitable donor.
Screening and testing for sickle cell disease
Sickle cell disease is often detected during pregnancy or soon after birth.
Screening for sickle cell disease is offered to all pregnant women to check if there’s a risk of a child being born with the condition, and all babies are offered screening as part of the newborn blood spot test.
Blood tests can also be carried out at any age to check for sickle cell disease or see if you’re a carrier of the gene that causes it. Ask your GP or Doctor.
Outlook
Sickle cell disease (SCD) is a serious condition that may shorten life. Without treatment. People with SCD may die in childhood from problems such as infection. Good treatment makes a great difference. Improvements in treatment mean that life expectancy has increased.
Even with modern treatment, SCD can still cause serious or life-threatening problems. Dangerous problems are severe infection, acute chest syndrome and sudden severe anaemia. Awareness of symptoms and early treatment is important.
There is a lot of individual variation in the severity and outlook (prognosis) for SCD. Some people get very few problems from their SCD; others have more symptoms or more complications.
The treatment of sickle cell anaemia is a developing area of medicine. New treatments continue to be developed and the information on outlook above is very general. The specialist who knows your case can give more accurate information about the outlook for your particular situation.
The Impact of Sickle cell Anemia.
There are – physical, emotional, psychological, financial and social impacts of living with Sickle cell anaemia both on the index person and the immediate family. Their lives are usually lived and moulded around this index and despite seeing the pain that the index goes through, it is known that in some families, some siblings do resent the index for getting all the attention of their parents as well as being the one they must sacrifice their everyday lives and events for. Especially around the limitations imposed on the family of the index due to recurrent illnesses and resultant socio-economic adaptations deployed by the parents to cope.
The index person usually misses school days due to illnesses and crises. Learning to cope with and manage this condition is a lot of responsibility to grapple with as a child and as a teenager. They might not be able to fully participate in every activity they would like, to protect from infection or other risks of injury eg contact sports injury to the spleen which can be fatal. They risk being bullied due to their mates thinking they are ‘different’ because they can’t join in certain activities, or because of some physical attributes that can be pronounced in some people with Sickle cell Anaemia.
The working life and society are not without prejudices! Any declaration of their health status might mean they won’t be employed for fear of them taking time off work frequently due to illness. The adjustments needed for optimal performances at work may not be available, making working conditions less than optimum with resultant risks to their health and pychological wellbeing. They suffer economic consequences as a result of not being able to retain their jobs. They suffer relationship difficulties for all sorts of perceived stigmas and expectations.
The mental burden is difficult to quantify. They are prone to depression and anxiety amongst other psychological troubles. These impacts can be mitigated by awareness and understanding of the condition by the general public which can be enhanced by educating the public right from young ages and in schools. Support is mainly available through charities and organisations eg Sickle Cell Society, but we know this can only do so much. The medical curriculum worldwide needs to be inclusive of more details and awareness about this condition as every location is now multiracial.
Should I and my partner have tests before starting a family?
Women or couples may want to be tested for sickle cell trait before starting a family, especially if their family origins make sickle cell trait more likely. We encourage awareness of sickle cell trait and early testing. You can ask your doctor for a sickle cell test.
The advantage of having tests before progressing in a relationship or becoming pregnant is that you will know whether or not there is a possibility that your baby could inherit SCD. This may be helpful when making significant decisions that would certainly have an overbearing impact going forwards. For example, you may want to have a prenatal test during pregnancy if there is a risk of SCD for the baby.The current recommendations are that women who are undergoing tests for infertility and women who are receiving infertility treatment should be tested for sickle cell trait.
Key messages:
Everyone needs to be aware they have the opportunity to know their genotype. This is achievable by a simple blood test that can be arranged by your doctor so please ask. This will enable one to make informed choices.
Awareness of this condition is to be encouraged so that people living with this condition can have a better social experience.
The healthcare system should ensure the expertise to manage this condition should be available in local communities, primary care and secondary care as opposed to it being majorly centered around Tertiary care.
Yours,
Dr Adeola
More from Dr Adeola:
HEALTH TALK WITH ADEOLA – DOCTOR’S DIARY
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