WHAT IS SICKLE CELL?
Sickle Cell or ‘Sickle Cell Anaemia’ is the name of a group of inherited diseases caused by a mutation in a blood protein called haemoglobin.
All sickle cell anaemias share one thing: structurally abnormal haemoglobin. Haemoglobin, which is a key component of red blood cells, is responsible for adequately delivering oxygen throughout the body and keeping red blood cells from deforming and losing function.
Often when people discuss ‘sickle cell disease’, they’re actually referring to sickle cell anaemia. In sickle cell anaemia, the gene for sickle haemoglobin is inherited from both parents and results in the production of only abnormal sickle haemoglobin. The same sickling of red blood cells shows up in other forms of the disease as well. The most common are sickle haemoglobin C, often called ‘SC disease’, ‘sickle beta-thalassaemia’, or ‘sickle beta thal’. Sometimes called by these other names, Sickle Cell Care prefers the term anaemia to disorder or disease like many other inherited conditions such as Haemophilia, Cystic fibrosis or Down’s Syndrome, don’t use the word disease because of all its negative connotations attached to them.
In sickle haemoglobin C disease, one parent passes down the gene for sickle haemoglobin, while the other parent contributes the gene for the abnormal C type of haemoglobin. The result is commonly referred to as HbSC. So sickle cell disease results not only from the inheritance of two sickle haemoglobin genes, but also from one sickle haemoglobin gene combined with another abnormal haemoglobin gene.
The sickle cell mutation leads to changes in the shape and behaviour of red blood cells. The clinical picture of patients with sickle cell syndrome can be remarkably different. Some patients remain virtually without complaints, while others suffer repeated or near permanent pain episodes requiring admission to hospital from early childhood. The red blood cells affected, ‘sickle’ i.e. become hard, sticky and misshaped, often in the form of a sickle (the sharp hooked blades used to cut wheat). These distorted cells may cause small blood clots that block blood flow; causing repeated painful episodes which is called a ‘crisis’, oxygen starvation to affected areas, strokes and other severe damage to the organs in the body.
Sickle cell Syndromes are among the most common genetic disorders in the UK and worldwide, and the are called haemoglobinopathies i.e disorders of the oxygen carrying haemoglobin in the blood. Haemoglobinopathies are a group of disorders of haemoglobin that are:
Autosomal i.e. genetic involving a non-sexual chromosome
Recessive i.e. normally only passed on if both parents have the full syndrome or trait
Inherited i.e. not contagious
There are milder and more severe forms of both sickle cell and thalassaemia and it is possible for one person to carry both the sickle cell and thalassaemia genes at the same time. In the UK, the haemoglobinopathies mainly, but not exclusively, affect ethnic minority groups. But no specific haemoglobinopathy is confined to a single group (Department of Health, 2003). The trait for alpha thalassaemia occurs in people of Chinese, Vietnamese, Greek, Middle Eastern and Cypriot heritages (Anionwu, 2003; Department of health)
The trait for beta thalassaemia occurs in varying rates among people of Mediterranean, Southern European, South Asian, Chinese, Vietnamese and African Caribbean heritages. The gene rarely occurs in people of White British Heritage, but the number of cases are increasing (Department of Health 2003). Here in the UK the two main groups affected by thalassaemia are the Cypriot and South Asian Communities.
Sickle Cell Statistics & Figures
There are no actual national or local figures to represent the number of people who suffer from these anaemias in the UK . However carrier frequencies can be used with census records to calculate estimates. We would like you to note that these figures are only minimums.
National Carrier Frequencies of Sickle Cell & Thalassaemia in the UK
In Britain 1 in every 300 people are considered at risk of having sickle cell anaemia.
In Britain 1 in 10 people are considered ‘at risk’ of having the sickle cell trait.
In Britain 1 in 100 people are considered ‘at risk’ of having the thalassaemia trait.
As an organisation supporting these suffers we have no doubt that these figures do not do justice to the actual number of people who exist and need support. (All figures from Merton Sickle Cell & Thalassaemia Group research report, 1996)
LINKS AND RESOURCES
Citizens Advice Bureau
British Heart Foundation
NHS Blood and Transplant
NHS Cell & Thalassaemia Centre, Nineveh Road, Handsworth, Birmingham
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