Which of the following conditions is due to membrane receptor defect?
Ans: B (Familial hypercholesterolemia) Ref: Robbins Pathologic Basis of Disease, 8th editionExplanation:Familial hypercholesterolemiaPathology: Mutations in the LDLR gene that encodes the LDL receptor protein, which normally removes LDL from the circulation, or apolipoprotein B (Apob), which is the part of LDL that hinds with the receptor. (See Table 9)
Beta thalassemia
Familial hypercholesterolemia
HSP
Sickle cell disease
Cytogenetic Disorders