If you would like to know more about sickle cell anaemia symptoms and diagnosis,and about sickle cell anaemia treatment, read the following article for more information.
This page is written by the Brent Sickle Cell and Thalassaemia Centre. Contact details are given at the end.
What is sickle cell?
Sickle cell is an inherited alteration of haemoglobin. Haemoglobin is the chemical inside the red blood cells which carries oxygen from the lungs to all body parts. The altered haemoglobin of sickle cell is called haemoglobin S. Sickle cell gets its name from the unusual shape (like a farmers sickle or half moon shape) of red blood cells containing haemoglobin S. Sickle is only one out of 600 unusual haemoglobins known in humans.
How do you get sickle cell?
We all inherit many of our characteristics through the genes we take from our parents, for example, the shape of our nose, colour of our eyes, whether we are tall or short and whether we have blond or black hair. Similarly we inherit our haemoglobin type through the genes we get from our parents. We get one haemoglobin gene from our mother and the other from our father. The usual or most common haemoglobin is haemoglobin A. If a person inherits two haemoglobin A genes they will have haemoglobin AA (commonly written HbAA). Sickle cell occurs as a result of a person inheriting a sickle haemoglobin S gene from one or both parents.
Sickle cell trait
Some people inherit one haemoglobin A gene and one sickle haemoglobin S gene and have sickle cell trait (commonly written HbAS). These individuals are referred to as 'healthy carriers' because they do not have any symptoms, they are well and do not have an illness. However, they can pass on the sickle haemoglobin S gene to their children.
For example, if both parents with sickle cell trait (HbAS) have a child, there is a 1 in 4 chance of the child inheriting the usual combination (HbAA), a 2 in 4 chance of the child inheriting sickle cell trait (HbAS) and a 1 in 4 chance of the child inheriting sickle cell anaemia (HbSS). Sickle cell anaemia is a form of sickle cell disease.
Here is how it works, each parent will give the child just one haemoglobin:
AS-MOTHER + FATHER-AS
|
CHILD
?
AA...or...AS...or...AS...or...SS
|
CHILD
?
AA...or...AS...or...AS...or...SS
Who does sickle cell affect?
Sickle cell is seen most commonly in people whose ancestors come from areas of the world where malaria is common. This includes people from Africa, Asia, South America, Middle and Far East and the Mediterranean. Because of migration and intermarriage it is also seen in the Caribbean and other parts of the world. For example, sickle cell trait is seen in: 1 in 4 West Africans; 1 in 10 African-Caribbeans; 1 in 50 Asians; 1 in 100 Greeks and occasionally in Northern Europeans.
What is sickle cell disease?
Sickle cell disease (SCD) is the name for a group of diseases where a person has inherited only sickle haemoglobin S genes (one from each parent) or a sickle haemoglobin S gene from one parent plus another unusual haemoglobin gene from the other parent. If both parents pass on a haemoglobin S gene to one or more of their children, the affected children will have sickle cell anaemia (HbSS). Other types, seen commonly, include sickle haemoglobin C disease (HbSC) and sickle beta thalassaemia disease (HbSBThal).
What happens if a person has sickle cell disease (SCD)?
People with SCD are generally well most of the time, but occasionally they may experience pain in any part of the body. This is because their haemoglobin S causes the red blood cells to change from a soft, spongy round disc into a hard, brittle, banana shape ('sickle shaped'). Because of their shape and hardness these cells break into small sharp pieces, they cannot flow easily through the blood vessels and may get trapped causing a blockage in blood flow. This can lead to pain in the area(s) of the body starved of blood. When this happens it is called a sickle cell or pain crisis which can be mild, moderate, severe or excruciating.
When and what causes the pain to come?
The pain of sickle cell crisis is unpredictable. It does not come in any given pattern, frequency or severity. Certain situations can trigger a pain crisis. These include:
- chilling of the body
- not enough water in the body (dehydration)
- sudden changes in body temperature (cold / heat)
- lack of oxygen
- infection (including the common cold)
- skipping meals and not having enough food to keep the body working well
- physical exertion
- emotional stress
Generally there is no specific trigger factor, it just happens. Sickle cell disease affects each person differently and two people with SCD, even in the same family, often have different experiences of the disease. What triggers a crisis in one person may have no effect on another person.
What happens if a person has a pain crisis?
Most people manage their pain very well at home with the help and support of their family, GP and community nurse. Often a pain killer, such as paracetamol, is taken to relieve the pain. A warm bath and rest usually helps. Some people find that gentle massage or putting a warm hot water bottle on the affected part can be soothing. Some people are prescribed stronger pain medications for use at home. If the pain is severe or persistent or there is any complication such as an infection, the person will need to see their GP who may refer them to hospital for medical and nursing care.
What can I do to help if someone I know is having a pain crisis?
The most important thing is to be reassuring and comforting as best as you can. If it is a child and you are a parent you will soon get to know how to manage such episodes. There is a book to help you with this learning process. Care and Management of Your Child with Sickle Cell Disease - A Parents Guide (cost £6.50, includes postage and packing, correct June 1999), written by specialist doctors and nurses with the help of parents of children with sickle cell disease. It is available from the Brent Centre, address is at the bottom of this page.
Are there other symptoms of sickle cell disease?
- Anaemia - normal red blood cells live about 120 days in the body, sickle cells only live about 5-30 days. Because their red blood cells have a shortened life span people with sickle cell disease have a low haemoglobin and are anaemic. Because they are anaemic people with sickle cell disease get tired easily. Therefore they may feel sleepy in class or at work and have difficulty concentrating. They may appear paler than most people, they can get breathless even with minimal physical activity and exertion. They are more likely to feel the cold compared to most people. Because their red blood cells break down quicker than normal, people with sickle cell disease may appear slightly yellow (jaundice) especially the eyes or skin, even when they are well.
- Infections - because people with sickle cell disease don't develop very good immunity, they are also prone to picking up infections easily, especially in early childhood. Infections need to be treated promptly to prevent a sickling (pain) crisis or other complications.
What is the usual treatment for sickle cell disease?
There is no specific treatment for SCD. Symptoms are treated as and when they occur. However, attempts are made to prevent infection by giving routine antibiotics once or twice daily from three months of age, right through childhood when infections are most common. Some doctors also advise folic acid which is a mineral needed for making red blood cells.
Because children with SCD do not develop good immunity it is important for them to have the full childhood immunisations. In addition they are also given a special vaccination, Pneumovax, between 8-24 months, which gives additional protection against infection. This vaccine is then given every five years, even in adulthood.
Do iron tablets help?
Although this condition is called 'anaemia' it is not the same as iron deficiency anaemia, where a person does not have enough iron in the body for making red blood cells. Provided people with sickle cell disease eat a normal balanced diet they generally have enough iron in the body and sometimes they store more iron than their body needs.
Giving iron tablets or tonics can do more harm than good and is not recommended unless it has been prescribed by a doctor when it is proven by special blood tests that the person is genuinely lacking in iron.
Is there a cure for sickle cell disease?
Yes. It is called Bone Marrow Transplantation (BMT). Bone marrow is obtained from a matched unaffected brother or sister or unrelated donor and transplanted to the person with sickle cell disease. However, this treatment is not without side effects and the physical, emotional and psychological effects can sometimes cause more distress than the disease itself.
How can families help?
The most important part a family can play is to learn as much as possible about sickle cell disease so that they can help prevent ill health, recognise symptoms of illness and offer care and support in the home. The psychological and emotional stress of living with sickle cell disease can be reduced if the individual gets support, encouragement and feels able to live as normal a life as possible in their own community.
Getting involved with local support groups and voluntary organisations is also a practical way of helping people with sickle cell disease. There are many voluntary organisations who offer information, advice and provide a forum for individuals, families and communities to give and receive mutual support. These organisations also act as a lobby group to ensure that services are provided for people with sickle cell disease nationwide.
Where can I get more information?
There are 37 specialist sickle cell and thalassaemia centres / services in the UK. They are generally funded by the NHS and run by specialist nurses, doctors and social workers. These centres offer information, advice, education of the public as well as educate health, allied and other professionals. They offer free testing and counselling to the general public and support to individuals with sickle cell disease and their families in hospital and community settings.
For further information or to find out where is your nearest sickle cell centre contact:
Brent Sickle Cell and Thalassaemia Centre
122 High Street
Harlesden
London NW10 4SP
Phone: 020 8961 9005
Fax: 020 8453 0681
122 High Street
Harlesden
London NW10 4SP
Phone: 020 8961 9005
Fax: 020 8453 0681
CHIQ Accredited
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