What is sickle cell disease?
Sickle cell disease is an inherited blood disorder that affects red blood cells. People with sickle cell disease have red blood cells that contain mostly haemoglobin S, an abnormal type of haemoglobin. Sometimes these red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels
Haemoglobin - is the main substance of the red blood cell. It helps red blood cells carry oxygen from the air in our lungs to all parts of the body. Normal red blood cells contain haemoglobin A. Haemoglobin S and haemoglobin C are abnormal types of haemoglobin. Normal red blood cells are soft and round and can squeeze through tiny blood tubes (vessels). Normally, red blood cells live for about 120 days before new ones replace them
People with sickle cell conditions make a different form of haemoglobin A called haemoglobin S (S stands for sickle). Red blood cells containing mostly haemoglobin S do not live as long as normal red blood cells (normally about 16 days)
They also become stiff, distorted in shape and have difficulty passing through the body's small blood vessels. When sickle-shaped cells block small blood vessels, less blood can reach that part of the body. Tissue that does not receive a normal blood flow eventually becomes damaged. This is what causes the complications of sickle cell disease. There is currently no universal cure for sickle cell disease
Types of sickle cell disease
There are also other different types of haemoglobin such as HbC and beta thalassaemia which can combine with sickle haemoglobin to cause sickling disorders. When someone carries the gene for beta-thalassaemia they cannot make as much HbA as they should. If this is combined with the HbS gene then more of their total amount of haemoglobin is HbS and they can suffer from what is usually a milder form of sickle cell disorder than sickle cell anaemia
Who gets sickle cell disease?
The different kinds of sickle cell disease and the different traits are found mainly in people whose families come from Africa, the Caribbean, the Eastern Mediterranean, Middle East and Asia. In Britain sickle cell disease is most common in people of African and Caribbean descent (at least 1 in 10-40 have sickle cell trait and 1 in 60-200 have sickle cell disease). It is estimated there are over 6,000 adults and children with sickle cell disease in Britain at present
Testing for sickle cell disease
A special blood test (haemoglobin electrophoresis) can tell you whether you have a sickle cell disorder or are a healthy carrier, e.g. for sickle cell trait. Routine screening should take place for people in the groups listed during pregnancy and before anaesthesia, either at hospital or dental clinics. Tests can be arranged by your general practitioner. After a blood test you may be told that you or your child is `sickle positive' or has `sickle cell'. It is important to ask whether this means sickle cell trait or a type of sickle cell disorder
What is sickle cell trait?
Sickle Cell trait (AS) is an inherited condition in which both haemoglobin A and S are produced in the red blood cells, always more A than S. Sickle cell trait is not a type of sickle cell disease. People with sickle cell trait are generally healthy
Inheritance
Sickle cell conditions are inherited from parents in much the same way as blood type, hair colour and texture, eye colour and other physical traits. The types of haemoglobin a person makes in the red blood cells depend upon what haemoglobin genes the person inherits from his or her parents. Like most genes, haemoglobin genes are inherited in two sets...one from each parent
Examples:
If one parent has Sickle Cell Anaemia and the other is Normal, all of the children will have sickle cell trait
If one parent has Sickle Cell Anaemia and the other has Sickle Cell Trait, there is a 50% chance (or 1 out of 2) of having a baby with either sickle cell disease or sickle cell trait with each pregnancy
When both parents have Sickle Cell Trait, they have a 25% chance (1 of 4) of having a baby with sickle cell disease with each pregnancy
"The NHS Sickle Cell & Thalassaemia (SC&T) Screening Programme has reached a major landmark this autumn. For the first time, newborn screening will be offered to all babies born in England. Roll-out of the test is already well advanced and is identifying some 300 affected babies each year. This enables early treatment to be offered to prevent serious illness and the risk of death
Access to these tests is hugely important. Sickle cell in particular is one of the most commonly inherited genetic disorders in the country. Knowledge of this condition is particularly important for black and minority ethnic groups, among whom sickle cell is especially prevalent
Those of West African heritage are most likely to be affected by sickle with up to 30 percent being carriers, but even among the Caribbean community, eight to 10 percent are affected
How will I know if I have the trait?
A SIMPLE PAINLESS BLOOD TEST followed by a laboratory technique called Haemoglobin Electrophoresis will determine the type of haemoglobin you have. When you pass an electric charge through a solution of haemoglobin, distinct haemoglobins move different distances, depending on their composition. This technique differentiates between normal haemoglobin (A), Sickle haemoglobin (S), and other different kinds of haemoglobin (such as C, D, E, etc.)
Medical problems
Sickle cells are destroyed rapidly in the body of people with the disease causing anaemia, jaundice and the formation of gallstones
The sickle cells also block the flow of blood through vessels resulting in lung tissue damage (acute chest syndrome), pain episodes (arms, legs, chest and abdomen), stroke and priapism (painful prolonged erection). It also causes damage to most organs including the spleen, kidneys and liver. Damage to the spleen makes sickle cell disease patients, especially young children, easily overwhelmed by certain bacterial infections
What treatments are available?
Health maintenance for patients with sickle cell disease starts with early diagnosis, preferably in the newborn period and includes penicillin prophylaxis, vaccination against pneumococcal bacteria and folic acid supplementation
Treatment of complications from sickle cell often includes antibiotics, pain management as strong as morphine intravenous fluids, blood transfusion and surgery all backed by psychosocial support
Blood transfusions help benefit sickle cell disease patients by reducing recurrent pain crisis, risk of stroke and other complications but the downside to this is that red blood cells contain iron, and there is no natural way for the body to eliminate it, sicklers who receive repeated blood transfusions can accumulate iron in the body until it reaches toxic levels. It is important to remove excess iron from the body, because it can gather in the heart, liver, and other organs and may lead to organ damage
Hydroxyurea was found to reduce the risk of severe pain, acute chest syndrome and the need for blood transfusions in adult patients but like any other drugs this can have its downside. Some sicklers are on a cocktail of different medications because they also suffer from other complications caused by sickle cell disease
"prevention is better than cure"
We cannot help who we fall in love with but on the other hand there are cautious methods that we can take in order for us to understand this illness in more detail and not be shocked by the outcome of it. A simple painless blood test can determine the type of haemoglobin you have, so you will know beforehand if your children could be affected by the disease. All babies are screened at birth for sickle cell disease. If you have the disease already then you can reduce the amount of crisis you have per year by, wrapping up warm in cold weathers, drinking plenty of fluids, take your time in doing activities and do not over do it, take your medications when prescribed, try not to stress yourself and when your body feels like it needs a break then follow the warnings
The above information is by courtesy of the Sickle Cell Disease Association of America and Broken Silence
Broken Silence is a UK based sickle cell charity
Broken Silence is a registered UK charity founded in 2004 by four young adults, Cherelle, Nordia, Marsha and Edward. Although all four members' sufferers from Sickle Cell disease they each experience different complications from the illness this goes to show that although you might know someone who has Sickle Cell both your life experiences with the disease can be very diverse
Broken Silence was formed in memory of Leona Dehaney, who sadly died at the tender age of 18 from complications relating to the disease. Broken Silence felt that if there was more awareness of Sickle the life of such a dear friend would have probably been saved
Broken Silence campaigns for the rights of (mainly young) people with Sickle Cell Disease
Please Click here to visit the Broken Silence website. Thank You.
The ACLT and Broken Silence have teamed up to raise awareness about the urgent need for the black, mixed race, Asian, Eastern Mediterranean, Middle Eastern communities to register and donate blood on a regular basis and to also step forward as potential bone marrow donors.
In both cases of blood and potential bone marrow donation we can assist those affected by sickle cell and thalassaemia disorders
Please Click here to to see where you can register as a donor
