The histology is of spherocytes (small spherical cells w/o central pallor). Hereditary spherocytosis is due to defect in proteins interacting with RBC membrane skeleton and plasma membrane (ankyrin, band 3, protein 4.2, spectrin). Mostly autosomal dominant inheritance (so heterozygous mutation since you only need one mutant allele to get the disease).
Auto dom disease are usually heterozygous (or so they want us to assume)
I got this Q wrong. I was wondering why this patient “has no personal or family history”. Hereditary spherocytosis should be a AD disease, so, generally speaking, this diz should be seen in each generation, right?
Can anyone answer why this one can't be F. Beta thalasemia major? I was thinking becaues of his anemia and the "european descent" which includes the mediteranian europeans. Unless NMBE writers think that european only means the ones with extra white people lol