Primary Care Doctor, Paediatrics (children's doctor), Haematology, General Practice

Sickle Cell Anaemia

Introduction to Sickle Cell Anaemia

Sickle cell anaemia is an inherited genetic disease of red blood cells which carry oxygen around the body. It is common in those of Eastern Mediterranean, African, Caribbean and Asian origin.

Written by Doctify Team 27/04/2020

What is Sickle Cell Anaemia?

Sickle cell anaemia is an inherited genetic disease of red blood cells which carry oxygen around the body. It is common in those of Eastern Mediterranean, African, Caribbean and Asian origin. A mutation (change) in the gene which contains information about how to make haemoglobin is changed. As as result, haemoglobin is made differently and so is less able to carry oxygen around the body. The red blood cells in which haemoglobin is carried, are also shaped differently. This makes them more likely to get stuck in blood vessels, resulting in tissue and organ damage and episodes of severe pain. It is a life long condition diagnosed in children but can be managed by medication and lifestyle changes.

What are the causes for Sickle Cell Anaemia?

Sickle cell anaemia is caused by inheriting the gene from both parents. The gene contains instruction for your body on how to make haemoglobin, a protein which carries oxygen around the body within red blood cells. Healthy haemoglobin can rearrange itself enabling red blood cells to be flexible as they pass through vessels. Haemoglobin made by patients with sickle cell anaemia cannot rearrange itself so becomes clumped together in the cell, therefore preventing the cell from being flexible and getting stuck in the vessels.
Sickle cell crises often occur with no underlying reason. However, there are triggers which will increase the chance of developing a crisis such as: changes in body temperature suddenly due to infection and onset of fever or changes in the outside temperature, dehydration due to losing more fluid than the body receives or sudden shortage of oxygen from exercise or stress.
Individuals may have unique triggers to them, it is worth noting what these are and trying to avoid/reduce exposure to the to reduce the number of crises.

What are the symptoms of Sickle Cell Anaemia?

Sickle cell crises are episodes of pain felt when the abnormal sickle shaped red blood cells get stuck in small blood vessels supplying tissues. This is the most common and distressing symptom of the condition. In younger children, their hands or feet may appear swollen and be painful. As a child gets older, pain can occur in any part of the body but the most commonly affected areas are rib, spin, pelvis, abdomen and the long bones in the arms and legs.The pain lasts on average 5-7 days but can range from a few minutes to several weeks.

Another symptom of sickle cell anaemia is anaemia. These red blood cells have a shorter life span and aren’t replaced quickly enough. People feel fatigued, short of breath and may experience palpitations in their heart.

Children can be more vulnerable to infection due to the effects the condition has on the spleen. The spleen is an organ responsible for filtering bacteria and viruses from the blood. Sickle cells disrupts this process. Children are most vulnerable to pneumonia, osteomyelitis and meningitis.

The combination of anaemia and an infection called parvovirus B19 (slapped cheek syndrome) can result in an aplastic crisis. This is when the number of red blood cells in the body suddenly drop making the child appear pale, fatigued, feverish, dizzy and have a headache.

Loss of blood supply to bone tissue causes avascular necrosis, often in the hip. It first appears as a pain in the groin or a limp. It can also affect the shoulder or elbow joints but this is less common.

Leg ulcers are another common side effect. The low number of normal red blood cells means it is hard to provide the injured site with nutrients to repair itself and keep the surrounding tissue healthy.

Priapism describes a persistent, painful erection of the penis. This can last several hours affecting teenage boys and men. Abnormal blood cells become trapped in the penis causing it to remain erect. Although people may be embarrassed to mention that they are experiencing priapism, it is imperative to get medical help as priapism lasting more than two hours can permanently damage the penis.

Severe complications of sickle cell anaemia can include a stroke, pulmonary hypertension or acute chest syndrome.

How is Sickle Cell Anaemia treated?

Sickle cell crises can be reduced by drinking fluids and remaining hydrated. For those who experience crises despise preventative efforts, they can be prescribed hydroxycarbamide medication. The medication stimulates the production of foetal haemoglobin, found in unborn babies. Foetal haemoglobin is produced by a different gene and so is not affected in sickle cell anaemia patients. Increased production of this can reduced the risk of experiencing a crisis. The medication is not recommended for pregnant women as it can affect the child resulting in them being born with birth defects.

The pain during a crisis can be managed at home in most cases. Mild pain can be managed by over-the-counter medications but if it is more severe, your GP could prescribe stronger pain relief. Other ways of easing the pain is by ensuring you or your child is hydrated, taking a warm bath or placing a warm towel over the painful area.

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