sickle cell disease Flashcards
define sickle cell disease?
a chronic condition with sickling of red blood cells caused by inheritance of haemoglobin S
what is the inheritance pattern of sickle cell?
• Autosomal recessive
features of sickled cells?
• Features of sickled cells:
o Reduced survival of 20 days
o Sequestration and destruction
o Occlusion of small blood vessels causing hypoxia, which leads to further sickling and occlusion
what might cause the sickling?
o Infection
o Dehydration
o Hypoxia
o Acidosis
epidemiology of sickle cell?
- Rarely presents before 4-6 months
* Most common in people of Afro-Caribbean descent
presenting symptoms of sickle cell disease?
- high risk of infection
- abdominal pain
- dactylics in kids
- rib, spine pelvic pain in adults
- Arthralgia
- fits and strokes
- visual loss
what are symptoms of SEQUESTRATION CRISIS ?
o Acute chest syndrome • Breathlessness • Cough • Pain • Fever • priapism
signs of sickle cell?
o Bone - joint or muscle tenderness or swelling
o Short digit
o Pain when exposed to the cold
signs of SEQUESTRATION CRISIS ?
o Organomegaly
o Priapism
gold standard investigation?
haemoglobin electrophoresis
what will the bloods show?
o FBC • Very low Hb levels • Reticulocytes: • HIGH - in haemolytic crises • LOW - in aplastic crises
what will blood film show?
o Sickle cells
o Features of Hyposplenism:
• Target cells
• Howell-Jolly bodies
management for acute crises ?
o Analgesia o Rehydrate o Oxygen o Antibiotics o Blood transfusion o Exchange transfusion
long term management?
• Hydroxyurea
• Infection Prophylaxis
o Penicillin V
o Regular vaccinations every 5 years - pneumococcus
what does infection with parvovirus do?
- temporary cessation of erythropoiesis causing RBCs to decrease rapidly
- viral prodrome
- Hb falls to less than 50 and there is reticulocytosis
