Presentation
Good morning, sir. I examined Fatima, an 8-year-old girl with sickle cell anaemia diagnosed at 9 months after painful swelling of her hands and feet. She has had three blood transfusions and two admissions for painful crises this year. She is small, with weight and height below the 3rd centile. She has frontal bossing and prominent upper jaw bones. She is pale and her sclerae are mildly icteric. She is not cyanosed, clubbed or in distress, and there are no leg ulcers. The pulse is 104 and regular; the precordium is hyperactive with a soft grade 2/6 ejection systolic murmur at the left sternal edge, and no signs of heart failure. The liver is 3 cm below the costal margin, firm and non-tender, and the spleen is not palpable. There is no focal neurological deficit and her hips move fully. I would like to complete my examination by checking her oxygen saturation, blood pressure and urine for protein.
Diagnosis
Sickle cell anaemia (HbSS) in steady state, with chronic haemolytic anaemia, marrow expansion, growth faltering and probable functional asplenia.
Differential diagnoses
- HbSC disease — milder anaemia, spleen often still palpable, proliferative retinopathy, avascular necrosis
- Sickle–beta-thalassaemia — microcytic indices, persistent splenomegaly
- Beta-thalassaemia major — severe microcytic anaemia from infancy, massive hepatosplenomegaly, transfusion dependence
- Hereditary spherocytosis — spherocytes, splenomegaly, family history, normal haemoglobin electrophoresis
- G6PD deficiency — episodic haemolysis after triggers, normal between episodes
- Hyperreactive malarial splenomegaly — massive spleen, raised IgM, responds to antimalarial prophylaxis
Investigations
| Test | What you expect or look for |
|---|---|
| Full blood count and reticulocytes | Haemoglobin 6–9 g/dL in steady state, reticulocytosis, raised white cells and platelets |
| Blood film | Sickle cells, target cells, Howell–Jolly bodies (hyposplenism), nucleated red cells |
| Haemoglobin electrophoresis or HPLC | HbS about 80–95%, HbF raised, no HbA |
| Parents' genotypes | Both carriers; for genetic counselling |
| Bilirubin, LDH | Raised unconjugated bilirubin and LDH — haemolysis |
| Urea, creatinine, urine protein-to-creatinine ratio | Sickle nephropathy |
| Liver function, abdominal ultrasound | Gallstones, liver disease |
| Transcranial Doppler (yearly from 2 to 16 years) | Velocity 200 cm/s or more means high stroke risk |
| Echocardiography | Pulmonary hypertension (tricuspid regurgitant jet) |
| Hip X-ray or MRI | Avascular necrosis |
| Eye examination | Retinopathy (mainly HbSC) |
| Ferritin | Iron overload in transfused children |
| Blood group with extended red cell typing; hepatitis B, C and HIV | Before transfusion; transfusion-transmitted infections |
Acute complications
| Crisis | Recognition | Emergency treatment |
|---|---|---|
| Vaso-occlusive pain | Bone, chest or abdominal pain; dactylitis under 3 years | Analgesia within 30 minutes (paracetamol, ibuprofen, IV morphine 0.1 mg/kg), fluids at 1–1.5 × maintenance, warmth |
| Acute chest syndrome | Fever, cough, chest pain, hypoxia and a new infiltrate on X-ray | Oxygen, IV cephalosporin plus a macrolide, analgesia, incentive spirometry, transfusion (simple or exchange) |
| Splenic sequestration | Sudden pallor, enlarging spleen, haemoglobin falls by 2 g/dL or more, shock; usually under 5 years | Raise the foot of the bed, ABC, oxygen, 10–20 mL/kg saline for shock, transfuse 5–10 mL/kg red cells, mark the spleen edge |
| Aplastic crisis | Pallor, fatigue, low reticulocytes; parvovirus B19 | Transfusion; isolate from pregnant staff |
| Hyperhaemolysis | Worsening jaundice and anaemia with high reticulocytes; malaria, G6PD deficiency | Treat the cause; transfuse if needed |
| Stroke | Hemiparesis, aphasia, seizures, reduced consciousness | Urgent exchange transfusion to HbS below 30%, imaging |
| Sepsis | Fever above 38.5 °C | Immediate IV ceftriaxone after cultures — an emergency |
| Priapism | Painful erection over 2–4 hours | Analgesia, fluids, urology — aspiration |
Management
Management is multidisciplinary and lifelong — haematologist, nurse specialist, psychologist, social worker, school and the family. I would counsel the parents on the disease, recognising emergencies, prevention of infection and crises, and the recurrence risk of 1 in 4 in each pregnancy.
Non-pharmacological
- Comprehensive sickle cell clinic follow-up
- Good hydration; avoid extreme cold, overexertion and dehydration
- Sleep under an insecticide-treated net
- Teach parents to feel the spleen and recognise pallor, fever, breathing difficulty and weakness
- Treat any fever of 38.5 °C or above as an emergency
- Nutrition, school support, and psychological support for chronic pain
Pharmacological
- Hydroxyurea from 9 months of age — start at 20 mg/kg/day, increase by 5 mg/kg every 8 weeks to the maximum tolerated dose (up to 35 mg/kg/day), monitoring the blood count; reduces pain crises, chest syndrome, transfusions and deaths
- Folic acid 5 mg daily
- Penicillin V prophylaxis from about 3 months to at least 5 years: 62.5 mg twice daily under 1 year, 125 mg twice daily at 1–3 years, 250 mg twice daily from 3 years
- Malaria chemoprophylaxis as per national guidelines (for example, proguanil daily)
- Vaccinations: routine schedule plus pneumococcal polysaccharide vaccine from 2 years (repeated after 5 years), meningococcal, typhoid, hepatitis B and yearly influenza
- Chronic transfusion with iron chelation (deferasirox) for stroke prevention; moderate-dose hydroxyurea where regular transfusion is not feasible
Surgical and interventional
- Splenectomy after recurrent sequestration or hypersplenism, ideally after 2 years of age and after vaccination
- Cholecystectomy for symptomatic gallstones
- Hip replacement or core decompression for avascular necrosis
- Haematopoietic stem cell transplantation from an HLA-matched sibling — curative, available in a few centres in Nigeria and abroad
- Gene therapies are approved in some countries but not yet accessible here
Complications and follow-up
- Stroke and silent cerebral infarcts; neurocognitive problems
- Acute chest syndrome, pulmonary hypertension
- Overwhelming pneumococcal sepsis; Salmonella osteomyelitis
- Gallstones; leg ulcers; avascular necrosis of the hip
- Sickle nephropathy — haematuria, proteinuria, enuresis, chronic kidney disease
- Retinopathy; priapism; delayed growth and puberty
- Iron overload and alloimmunisation from transfusion
- School absence, depression, stigma; high cost of care
Review every 3 months: growth, blood count, oxygen saturation and blood pressure, and yearly transcranial Doppler, urine protein, eye review and echocardiography in older children. Plan transition to adult care in adolescence.
Examiner questions
References
- Kliegman RM, St Geme JW, Blum NJ, Tasker RC, Wilson KM, et al., eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia: Elsevier; 2025.
- National Heart, Lung, and Blood Institute. Evidence-based management of sickle cell disease: expert panel report, 2014. Bethesda: NHLBI; 2014.
- DeBaun MR, Jordan LC, King AA, et al. American Society of Hematology 2020 guidelines for sickle cell disease: prevention, diagnosis, and treatment of cerebrovascular disease in children and adults. Blood Advances. 2020;4:1554–88.