What is Sickle Cell?

Sickle Cell or 'Sickle Cell Syndrome' is the name of a group of inherited diseases caused by a mutation in a blood protein called haemoglobin.

All sickle cell syndromes 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.

Sickle Cell Anaemia

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," and sickle beta Thalassaemia, or "sickle beta thal."

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.

Sickle Cell Disease

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.

'Sickling'

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 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 called crisis, oxygen starvation to affected areas, strokes and other severe damage to the organs in the body.

The many faces of Sickle Cell Anaemia & Thalassaemia

Sickle Cell PSA :: Face the Facts :: PSA 1

Sickle Cell PSA :: Face the Facts :: PSA 2

Sickle Cell PSA :: Face the Facts :: PSA 3

Haemoglobinopathies

Sickle cell Syndromes are among the most common genetic disorders in the UK and worldwide.

Sickle Cell Syndromes are haemoglobinopathies i.e disorders of the oxygen carrying haemoglobin in the blood.
Haemoglobinopathies are a group of disorders of haemoglobin that are:

- outosomal 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

The most common Haemoglobinopathies are Sickle Cell Syndrome and Thalassaemia. Sometimes called sickle cell disease or sickle cell disorder, although The Sickle Cell Centre prefers the term syndrome to disorder or disease just as many other inherited conditions such as haemophilia, Cystic fibrosis or Down's syndrome do not have the word disease with all its negative connotations, attached to them.
There are milder and more severe forms of both Sickle Cell Syndrome and Thalassaemia and it is possible for one person to carry both the sickle cell and thalaasemia genes at the same time.

In the UK, the haemoglobinopathies mainly, but not exclusively. affect minority groups. But no specific haemoglobinopathy is confined to a single group (Department of Healt, 1993).

The trait for alpha thalassaemia occurs in people of Chinese, Vietnamese, Greek, Middle Eastern and Cypriot heritages (Anionwu, 1993; Department of health)

The trait for beta thalasemia occurs in varying rates among people of Mediterranean, Southern European, South Asian, chinese, Vietnamese and African Caribbean heritages. The gene rarely occurs in peple of white British Heritage (Department of Health 1993)

In britain the two main groups affected by Thalasaemia are the Cypriot and South Asian Communities.

Sickle Cell Statistics & Figures (Merton Sickle Cell & Thalassaemia Group)
There are no actual national or local figures to represent the number of people who suffer from Sickle Cell and Thalassaemia 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.
(figures from ‘Sickle Cell in Merton' research report, 1996)
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. (Merton Sickle Cell & Thalassaemia Group)