It is a hereditary disease characterized by the possession of two abnormal haemoglobins one of which is haemoglobin S. It usually presents in children and young adults as seasonal joint pains, especially in cold weather, and jaundice. It is due to sickling of red blood cells caused by various factors.
There are various types including HbSS, HbS thalassaemia and HbSC. The possession of one normal haemoglobin and an abnormal S haemoglobin does not constitute sickle cell disease. It is a trait.
Sickle cell disease may present with crises. Crises may be in the form of thrombotic crises (precipitated by cold, dehydration, infection, ischaemia, physical exertion), which cause pain often in the bones. Other types of crises may also occur. These include haemolytic, aplastic and sequestration crises. In aplastic crises there is anaemia with a low reticulocyte count. In sequestration crises, the spleen and liver enlarge rapidly due to trapping of red blood cells. Anaemia is very severe in this case.
Avoid the use of the word ‘sickler"; it has no meaning and tends to give a person an unfavourable label.
SYMPTOMS
• Joint and bone pain, especially during cold wet seasons
• Periodic jaundice
• Abdominal pain, especially in the splenic area
• Spontaneous sustained erection without sexual arousal in male patients (priapism) may occur
SIGNS
• Jaundice
• Pallor
• Hepatomegaly
• Splenomegaly
• There may be old or recent scarification marks suggesting the long history of the illness.
INVESTIGATION
• Full blood count
• Sickling test
• Haemoglobin electrophoresis
TREATMENT
Therapeutic objectives
• To prevent the development of crises
• To treat crises and complications
The patient may either present to you, in crisis, in the steady state, or with complications.
In Crisis
(Evidence rating: C)
• Prompt determination and treatment of precipitating cause e.g. infection, malaria.
• Give intravenous fluid and electrolyte therapy. (Usually Glucose in Sodium Chloride):
| |
Adults: |
5% Glucose in 0.9% Sodium Chloride |
| |
Children: |
4.3% Glucose in 0.18% Sodium Chloride |
• Give pain relievers e.g. Paracetamol, oral or suppository, 6-8 hourly or Ibuprofen, oral, 8 hourly
| |
Paracetamol |
Ibuprofen |
Adults: |
500 mg - 1 g |
400-600 mg |
Children: |
|
|
3 months to 1year |
60-12 mg
(2.5-5 ml syrup) |
50-100 mg (from 9 months) |
1-5 years |
120 - 250 mg
(5-10 ml syrup) |
100-200 mg |
6-12 years |
250 - 500 mg |
200-400 mg |
Pethidine, IM (if in severe pain). Do not give if there is difficulty in breathing.
| |
Adults: |
25 - 100 mg repeated every 4 hours as required. |
| |
Children: |
0.5 - 2 mg/kg body weight repeated every 4 hours as required. |
• Blood transfusion when needed, but not routinely. (Transfusion will be necessary if haemoglobin level <5 g/dl)
In The Steady State
• Maintain a good nutritional state
• Prompt treatment of infections
• Give daily folic acid supplements 5 mg; in children under 1year give 2.5 mg
• Encourage drinking plenty of fluids
• Encourage periodic check-ups at the Sickle Cell Clinic
PREVENTION
• Avoid precipitating causes of crisis if possible e.g. malaria, pneumonia, exposure to cold weather, other infections
• Educate patient to tell doctor he has sickle cell disease SC, SS etc.
• Genetic counselling
REFER
All patients with complications such as bleeding into the eye, aseptic necrosis of the hip, priapism, haematuria, stroke and osteomyelitis.
