The primary defect which leads to sickle cell anemia is:
AAn abnormality in porphyrin part of hemoglobin
BA nonsense mutation in the β-chain of HbA
CSubstitution of valine by glutamate in the α-chain of HbA
DReplacement of glutamate by valine in β-chain of HbA
A child presents with recurrent chest infections and abdominal pain. There is a history of 1 blood transfusion in the past. On examination, he had icterus and mild splenomegaly. Electrophoresis shows increased HbA2, HbF, and S spike. What is the likely diagnosis?
AHbC disease
BSickle cell disease
CAplastic anemia
DSickle Beta Thalassemia
Which of the following has Autosomal Recessive inheritance?
AOsteogenesis imperfecta
BHereditary spherocytosis
Cvon Willebrand Disease Type 1
DSickle cell anaemia
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