Sickle cell disease

Headline
Etiology "point mutation in the sixth codon of beta-globin" - Robbins
Epidemiology
Clinical presentation vaso-occlusive crises, see below
anaemia is not often symptomatic due to HbS affinity for oxygen
Pathogenesis HbS - insoluble in deoxygenated state
oxygen dissociation curve shifted to the right = higher affinity for oxygen
Diagnostic investigations Haemolytic screen: ↑ reticulocytes (if ↓↓, suspect parvovirus)
FBC: normocytic anaemia
Blood film: nucleated blood cells, Howell-Jolly bodies, sickle cells
Management hydroxycarbamide - short term benefit (↓ transfusions); poor evidence for long term benefit

- functionally asplenic; complement deficiency → Pen V or erythromycin
- annual flu + pneumococcal vaccine
- avoidance of triggers - cold, dehydration, acidosis... (this includes medical, peri-op teams looking after them too!)

Acute presentations of sickle cell disease

#pathology #haematology #incomplete

https://cks.nice.org.uk/topics/sickle-cell-disease/references/

`joblist:

  • `link to curernt guidelines. transfusion?