NBME 20

nbme20/Block 3/Question#11

A 3-year-old boy is brought to the physician ...

Heterozygous mutation in the ankyrin gene

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submitted by nala_ula(3),

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).


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submitted by strugglebus(43),

Auto dom disease are usually heterozygous (or so they want us to assume)

xxabi  How do you know is autosomal dominant? +1  
scpomp  Hereditary spherocytosis +