what is sickle cell?

what is sickle cell?

What is Sickle Cell Disease?

 

Sickle Cell is the name of several different but similar disorders that affect haemoglobin. Haemoglobin gives blood its red colour and carries oxygen around the body. The name Sickle Cell comes from the shape of the red blood cells which are normally round and flexible become shaped like a crescent moon. The sickled cells do not live as long in the body as normal red blood cells and this can lead to Anaemia.

Sickled red blood cells are ridged and can sometimes get stuck in the blood vessels. If the Sickled cells become stuck this reduces the blood supply to that area of the body and can lead to a pain crisis and sometimes damage. These painful episodes can come on suddenly and may last hours or days.

What are the different types of Sickle Cell?

There are over 1000 different types of unusual haemoglobin but the ones most seen in the UK are: 

  • Sickle Cell anaemia (HbSS)
  • Sickle haemoglobin C (HbSC)
  • Sickle beta thalassaemia (Hbs/β)
  • Sickle haemoglobin with hereditary persistence of foetal Haemoglobin (S/HPFH)
  • Sickle haemoglobin E (HbSE)
  • Sickle haemoglobin D (HbSD)
  • Sickle haemoglobin O-Arab (HbSO Arab)
  • Sickle Cell Trait (HbAS)

There are several other combinations of unusual haemoglobin which can result in a Sickle Cell disorder, but they are very rare.

Who can get Sickle Cell?

Sickle Cell can only be inherited. It mostly affects those from BAME (black and minority ethnic) groups however, this is not always the case. To inherit Sickle Cell at least one parent must carry a Sickle Cell gene and the other have either a Sickle Cell gene or another unusual haemoglobin type.

How Sickle Cell Anaemia is inherited:

AS= Sickle Cell Trait

SS= Sickle Cell Anaemia

AA= Normal Haemoglobin 

What are the symptoms of Sickle Cell?

Symptoms vary person to person and some people can be affected more frequently than others. These include:

  • Swelling in the hand and/or feet (dactylitis)
  • Pain episodes also known as a Sickle Cell Crisis
  • Anaemia
  • Enlarged spleen
  • Gallstones
  • Priapism (painful erections)
  • Infection in the bone (Osteomyelitis)
  • Leg ulcers
  • Organ failure
  • Acute chest syndrome (when blood builds up in the lungs)
  • Stroke
  • Headaches
  • Eye problems
  • Jaundice
  • Avascular necrosis

What can cause Sickle Cell symptoms?

  • Infection
  • Dehydration
  • Extremes of cold and heat (often skin cooling)
  • Stress and anxiety
  • Physical exertion

What are the treatments for Sickle Cell?

Hydroxyurea – acts directly on the bone marrow where blood is made to reduce the amount of Sickle haemoglobin.

Bone Marrow transplant also known as stem cell transplantation – this is the only cure for Sickle Cell. Whilst the treatment has successfully cured Sickle Cell there are several complications and 1 in 10 will not survive the transplant.

Gene therapy – the introduction of normal genes into cells in place of missing or defective ones in order to correct genetic disorders

Penicillin – Penicillin fights bacterial infections. Taking penicillin daily helps protect the body from infections that could trigger Sickle Cell symptoms

Folic acid – helps the body make new red blood cells

Regular blood transfusions – blood transfusions are essential and life-saving therapy for some acute complications of Sickle Cell and has been shown to reduce the risk of chronic and progressive organ damage in the case of ischaemic stroke.

What does it mean if you have Sickle Cell Trait?

Sickle Cell Trait means that you are a ‘carrier’ of Sickle haemoglobin. It does not usually cause any significant illness, but some symptoms may occur, and the person should take precautions when participating in sports, circumstances where there is a lack of oxygen such as deep-sea diving and mountain climbing. It is important for them to keep well hydrated and following the general precautions of someone with a ‘full blown’ Sickle Cell Anaemia.

Some health problems that may occur can include pain in the spleen, muscle breakdown (rhabdomyolysis), reduced blood supply to the spleen (ischemia/infarction), or increased pressure in the eye (glaucoma) following eye injuries. Finally, a very rare form of kidney cancer (renal medullary carcinoma) has been associated with Sickle Cell Trait.

If both parents carry a Sickle Cell gene (have Sickle Cell Trait) there is a 25% chance their child could inherit Sickle Cell Anaemia, a 25% chance they would have normal haemoglobin and have no Sickle Cell disorder and a 50% chance that they could have Sickle Cell Trait and be a carrier like their parents and may pass it on to their children.

 

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