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SICKLe CeLL DISeaSe (SCD) IS THe FaSTeST gROWINg geNeTIC DISORDeR IN THe uK, WITH appROxIMaTeLy 300 BaBIeS BORN WITH THe DISORDeR eaCH yeaR…


SICKLe CeLL DISeaSe I


t is estimated that approximately 15,000 people in the united Kingdom have SCD, with around


300 babies born with the disorder each year.


Sickle cell is a disorder of the haemoglobin in the body’s red blood cells. Haemoglobin is the substance that is used to transport oxygen around the body.


people with SCD produce unusually shaped red blood cells that can cause problems because they do not live as long as healthy blood cells and can also block blood vessels.


The disorder can affect anyone, although it predominantly affects people of african and Caribbean descent. The effects of SCD tend to vary between individuals, but most people with it manage to lead happy and normal lives. Indeed, mild SCD may have no impact on a person's day-to-day life at all.


Symptoms The main symptoms of sickle cell disorder are anaemia and episodes of severe pain. The pain is caused by the cells changing shape after oxygen has been released. The red blood cells then stick together and this causes blockages in the small blood vessels.


Nearly all people with SCD have anaemia, which causes tiredness and shortness of breath. anaemia can also lead to a sudden drop in the number of red blood cells and may cause additional symptoms, such as headaches, a rapid heartbeat, dizziness and fainting.


42 - pHaRMaCy IN FOCuS


SCD patients may also be at increased risk of serious infections, acute chest syndrome, blindness, bone damage and priapism (a painful, persistent erection of the penis).


Causes SCD is caused by inheriting the sickle cell gene. genes come in pairs, with one set inherited from the mother and one from the father. To be born with SCD, a child has to inherit a copy of the sickle cell gene from both of their parents. In most cases this happens when both parents are ‘carriers’ of the sickle cell gene, but it can also happen when one parent has SCD and the other is a carrier of it.


This is also known as having the sickle cell trait.


If both parents have the gene, there's a one in four chance of each child they have being born with sickle cell disease.


Diagnosis SCD is often detected during pregnancy or soon after birth. Screening for SCD is offered to all pregnant women in the uK to check if there's a risk of a child being born with the condition.


In addition, all babies are offered screening as part of the newborn blood spot test, which is also known as the heel prick test.


Blood tests can, however, be carried out at any age to check for SCD or if a person wants to know if they’re a carrier of the gene that causes it.


Over time people with sickle cell can experience damage to organs such as the liver, kidney, lungs, heart and spleen. Death can also result from complications of the disorder.


Painful episodes episodes of pain known as sickle cell crises are one of the most common and distressing symptoms of sickle cell disease. These crises occur when blood vessels to part of the body become blocked. The pain can be severe and can last for up to seven days.


a sickle cell crisis often affects a particular part of the body, such as the: • hands or feet (particularly in young children)


• ribs and breastbone • spine • pelvis • tummy • legs and arms


Some people may have a crisis every few weeks, while others may have fewer than one a year.


The main thing a patient can do to reduce their chances of experiencing a painful episode is by avoiding possible triggers.


Treatment Sickle cell disease is a lifelong health condition, but treatment can sometimes help manage many of the symptoms.


among the treatments available are: • drinking plenty of fluids and staying warm to prevent painful episodes


• painkillers, such as paracetamol or ibuprofen


• daily antibiotics and having regular vaccinations to reduce the chances of getting an infection


• a medicine called hydroxycarbamide (hydroxyurea) to reduce symptoms


• regular blood transfusions if symptoms continue or get worse, or there are signs of damage caused by sickle cell disease


• an emergency blood transfusion if severe anaemia develops


The only ‘cure’ for sickle cell disease is a bone marrow transplant or stem cell transplant, but these aren’t done very often because of the risks involved.


They’re also only possible for a limited number of affected individuals.


SCD STATISTICS


• One in 76 babies born in the uK carry sickle cell trait


• Children with SCD are at increased risk of stroke


• The risk is highest between the ages of two and 16


• SCD is inherited from both parents; sickle cell trait is inherited from one parent


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