Leg Pain Cases Flashcards
what genetic mutation results in sickle cell anemia?
replacement of glutamic acid (hydrophilic) with valine (hydrophobic) in the Beta chain
chromosome 11
sickle cell disease arises when two abnormal […] chains are present
beta
(results in >90% HbS)
HbS […] when deoxygenated, resulting in needle-like structures
polymerizes
increased risk of sickling occurs with [3]
hypoxemia
dehydration
acidosis
Hb[…] protects against sickling
HbF
high [….] at birth is protective against sickling for the first few months of life
HbF
(no need for hydroxyurea in newborns, consider PCN prophylaxis against capsular bacteria)
had an Amboss question that said PCN ppx for first five years of live
treatment of SCD with […] increases levels of HbF
hydroxyurea
patients with SCD have a high risk of aplastic crisis with [….] infection
Parvovirus B19
patients with SCD have an increased risk of […] osteomyelitis
salmonella paratyphii
autosplenectomy in patients with SCD will result in […] on blood smear
Howell-Jolly
what is the most common cause of death in children with SCD?
sepsis by encapsulated bacteria
(S. pneumo, H. flu)
what is the most common cause of death in adults with SCD?
acute chest syndrome
(vaso-occlusion of pulmonary microcirculation; often precipitated by pneumonia)
one mutated and one normal B chain results in
sickle cell trait
(HbA and HbS on electrophoresis)
RBCs with less than 50% HbS do not sickle, EXCEPT for in the […]
renal medulla
(seen in sickle cell trait)
what would you expect to see on blood smear of a patient with SCD? [2]
sickle cells
target cells
(would not be seen in sickle cell trait)
[…] screen causes cells with any amount of HbS to sickle
will be positive in both SCD and trait
metabisulfate
massive […] hyperplasia in patients with SCD results in “crewcut” skull and “chipmunk facies”
erythroid
(extramedullary hematopoiesis)
patients with SCD often present with […] due to vaso-occlusive infarcts in bones
dactylitis
(often first sign seen in infants0
does SCD present with extravascular hemolysis or intravascular hemolysis?
Both - but mostly extravascular
how would you differentiate SCD from beta thalassemia?
beta thalassemia is microcytic, SCD is normocytic
electrophoresis would have HbA2 in beta thalassemia
how would you differentiate SCD from hereditary spherocytosis?
cell shape
spherocytosis is diagnosed via osmotic fragility test (fragility in hypOtonic solution)
spherocytosis has high RDW and high MCHC
how would you differentiate SCD from hereditary pyruvate kinase deficiency?
PKD presents in newborns with jaundice
what are the adverse effects of hydroxyurea? [3]
myelosuppression
mastocytosis
darkening of skin/nail beds
Sickle cells lack elasticity and adhere to vascular endothelium, which disrupts microcirculation and causes vascular […] and subsequent tissue […]
occlusion
infarction
painless gross hematuria in a patient with sickle cell trait may indicate
renal papillary necrosis
inhibits xanthine oxidase, preventing the formation of uric acid
allopurinol