Hereditary Spherocytosis Flashcards
(17 cards)
What type of genetic inheritance is associated with hereditary spherocytosis?
Autosomal dominant
What type of mutation leads to hereditary spherocytosis?
Heterozygous mutation in ankyrin, spectrin, or band proteins
What is the primary defect in hereditary spherocytosis?
RBC cell membrane/cytoskeletal defect
How do RBCs appear in a smear for hereditary spherocytosis?
Lacking central pallor; appear full and red
What type of anemia is associated with hereditary spherocytosis?
Normochromic, normocytic anemia
What condition can arise due to increased RBC turnover in hereditary spherocytosis?
Pigment stone cholelithiasis
What lab parameter can be increased in hereditary spherocytosis?
Mean corpuscular hemoglobin concentration (MCHC)
Which test is used to diagnose hereditary spherocytosis?
Osmotic fragility test and eosin-5-maleimide
What is the result of the Coombs test in hereditary spherocytosis?
Negative
What lab findings are indicative of hereditary spherocytosis?
Negative Coombs, elevated reticulocytes, elevated MCHC
What is the primary treatment for hereditary spherocytosis?
Splenectomy
What other procedure might be mentioned alongside splenectomy in the context of hereditary spherocytosis?
Cholecystectomy
In a USMLE question, what familial detail might suggest hereditary spherocytosis?
One parent had splenectomy +/- cholecystectomy for anemia
Which hereditary condition is often treated with splenectomy?
Hereditary spherocytosis
True or False: Sickle cell disease is treated with splenectomy.
False
What causes autosplenectomy in sickle cell disease?
Repeated microinfarcts within splenic microvasculature
Hereditary spherocytosis: RBCs lacking central pallor. If they show you a smear, they look
full and red.
