Question on HS

Which of the following best explains the pathology of this disease? 

A.Defects in erythrocytic membrane proteins such as spectrin and actin, or other RBC membrane proteins. 

B. A single DNA base change leads to an amino acid substitution of valine for glutamate in the sixth position on the beta-globin chain.

C.hereditary disorders characterized by reduction in the synthesis of globin chains (alpha or beta). 

D.A hereditary enzyme defect that causes episodic hemolytic anemia because of the decreased ability of RBCs to manage oxidative stress.

E.A congenital deficiency of coagulation factor VIII

Correct Answer is A: Hereditary spherocytosis is the result of an erythrocyte membrane defect.  It can present as splenomegaly, neonatal jaundice, pigmented gallstones, aplastic crises after a parvovirus B19 infection. 

B is the pathology seen in sickle cell anemia  

C is the pathology seen in thalassemia 

D is the pathology seen in Glucose-6-phosphate dehydrogenase (G6PD) deficiency

E is the pathology seen in Hemophilia A