PATHOLOGY

PATHOLOGY MCQ

HAEMOPOIETIC SYSTEM

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
Spherocytic anemia is caused by ____
A
mutation on gene that produce G6PD enzyme leave the membrane exposed to oxidation by free radicals
B
mutation on gene lead to failure in ankyrin and spectrin production
C
inherited defect on hemoglobin structure that caused crystallized hemoglobin and lead to change of RBC shape.
D
None of the above
Explanation: 

Detailed explanation-1: -Mutations in ankyrin gene (ANK1) is the most common cause of HS in Northern European populations but is seen in only 5–10% of Japanese patients. The majority of them are familial mutations inherited in an autosomal dominant form.

Detailed explanation-2: -The primary defect in the hereditary spherocytosis (HS) syndromes is a qualitative or quantitative alteration in one or more erythrocyte membrane proteins. Mutation of the erythrocyte membrane protein ankyrin are the most common cause of typical, dominant HS.

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