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Sickle Cell Society Tel 020 8961 7795 |
This page is intended to give you the information you need to recognise sickle cell disease and to help someone who has it to lead a good life. This site has been approved by OMNI and can also be accessed through their site and through NHS Direct. Contents
Basic FactsSickle Cell Disease is the name given to a group of inherited conditions of haemoglobin formation. It includes Sickle Cell Anaemia (Hb SS), Haemoglobin SC Disease (Hb SC) and Sickle Beta Thalassaemia (Hb Beta-Thal). Of these the most common and severe is sickle cell anaemia. There are over 300 different types of haemoglobin. The most common type is haemoglobin A (Hb A) and most people inherit Hb A from both parents (Hb AA). Sickle cell anaemia occurs when a person inherits 2 genes for Hb S, one gene from each parent. For the fundamental facts on Sickle Cell Disorders go to the What is Sickle Cell? page. Sickle Cell Trait is not an illness and cannot turn into Sickle Cell Disease. What are haemoglobin SC disease (Hb SC) and Sickle Beta-Thalassaemia (Hb S-Thal)?These conditions occur when someone inherits sickle
haemoglobin (Hb S) from one of their parents and either haemoglobin
C or Beta-Thalassaemia from the other parent. The symptoms of these
two conditions are often similar to, but usually less severe than,
those of sickle cell anaemia. People with Sickle Cell Anaemia, Sickle
Beta -Thalassaemia and SC disease can have problems with sight,
although this retinopathy is more likely to occur in Hb SC individuals. What are the symptoms of sickle cell disorders?Although sickle cell disorders are present from birth, symptoms are rare before the age of three to six months, due to the persistence of foetal haemoglobin ( Hb F ). The main symptoms of sickle cell disorders are anaemia, pain or infection. The episodic exacerbation of pain, anaemia or jaundice are called sickle cell crises. Some people get crises quite often; others may have them only once every few years. In between crises the affected person is usually quite well. Most serious acute complications occur during childhood. People with SC disease and some with Sickle Beta -Thalassaemia may never experience a painful crisis but still develop chronic eye, bone or kidney problems. People who only have sickle cell trait do not suffer any of the symptoms of sickle cell disorders. Sickle cell trait is not an illness and people with trait are usually healthy (although very occasionally haematuria may occur). However, they require extra oxygen during anaesthesia and surgical operations, and are advised against participating in some sports, such as scuba diving or climbing very high mountains, where the oxygen supply may become reduced. How to recognise a sickle cell crisis?A crisis may be associated with a sudden onset of any of the following: PainSickle cell anaemia ( Hb SS ) sometimes causes attacks of pain to the chest, abdomen, back, jaw, legs and arms. They occur because the Sickling of the red blood cells causes them to block up small blood vessels and stop the flow of blood. The 'sickling' of red blood cells which can cause a crisis is more likely to take place under certain conditions. These include a reduction of the level of oxygen in the blood (after exertion, during anaesthetics or at very high altitudes), dehydration, and during pregnancy. Painful crises may also occur in association with febrile childhood or adult illnesses. If pain is very severe, admission to hospital may be necessary. AnaemiaPeople with sickle cell disease are not always anaemic. In those with Sickle Cell Anaemia, however, the haemoglobin is between 7 and 10 G / l and the blood picture shows anisocytosis, sickle cells and a raised reticulocyte count due to haemolysis. The anaemia may become worse as a result of acute splenic sequestration or an aplastic crisis. If so, emergency treatment with blood transfusions may be necessary. InfectionsPeople with a sickle cell disorder are particularly prone to minor infections and also to serious and life-threatening infections like septicaemia, pneumococcal meningitis and osteomyelitis. Other problemsSickle cell disorders involves multiple systems. Children may get painful swelling of the hands and feet (called the hand-foot syndrome). They are also prone to enuresis and delayed puberty. Adults (and sometimes children) can develop stiff and painful joints or ulcers on the lower legs. In general, people with sickle cell disease have an increased incidence of gallstones, jaundice, haematuria, strokes, priapism and difficulties during pregnancy and childbirth. Diagnosis of Sickle Cell Anaemia and Sickle Cell TraitOne method of diagnosing both sickle cell disease and trait is a specific blood test called haemoglobin electrophoresis which shows the haemoglobin type (e.g. AA, AS, AC, SS, SC etc..). The sickle cell solubility test is a simple method that detects the presence of sickle haemoglobin, but does not distinguish between sickle cell trait and sickle cell disorders, and gives no information about the other abnormal haemoglobins. It should never be used on its own. Family studies and the measurement of Hb A2 and Hb F may be required for a complete and accurate diagnosis of sickle cell disease. When to screen for sickle cell trait and diseasePeople of relevant ethnic origin should be offered screening, with genetic counselling before and after screening. People should be screened:
Management of people who have sickle cell disorders(Note: This section does not refer to sickle cell trait.) Although there is no cure for sickle cell disorders, doctors and other professionals can help to reduce the frequency and severity of crises and their complications by prompt recognition and treatment. Like any chronic illness, sickle cell disorders are sometimes difficult to come to terms with. Practical and sympathetic advice can help affected families and individuals to cope with the inconvenience and painful effects of the condition. Treatment of sickle cell disorders depends on
the condition of the patient. In general, management falls into
the following categories: Steady State
CrisisMinor crises can be safely managed at home with pain killers and increased fluid intake. If the patient has high fever, severe pain requiring opiate analgesia, pain in the chest, spine or abdomen, or neurological signs, he or she should be admitted to hospital. Small children, who are always at risk from severe infections, should ideally be seen by a paedriatician with experience in sickle cell disease. In hospital the following management is usually offered:
PregnancyPregnancy in sickle cell disease is associated with increased risks to both the mother and the baby. Affected pregnant women should be looked after by a unit experienced in the care of women with this condition. Blood transfusion may be needed in some women with poor obstetric history or a severe form of sickle cell disease. Regular folic acid, prompt treatment of infections and crisis, and an increased fluid intake make it possible for most women to have successful pregnancies. Glossary Haemoglobin type and Description Where to get further information
Please read our Disclaimer Text produced by the Sickle Cell Society (Registered
Charity Number 1046631) with kind permission of the Health Education
Authority and the editorial help of our Medical Advisors and others.
For further information contact: Sickle Cell Society Tel 020 8961 7795 |
