Hereditary Anaemia due to membrane defect and enzyme deficiency Part 1 Flashcards
what is the pattern of inheritance associated with spherocytosis ?
autosomal dominant
what are the clinical features of hereditary spherocytosis
1- anemia presenting at any age
2- jaundice if associated with gilbert’s disease
3- splenomegaly
4- pigment gall stones
5- aplastic crisis
what is found in history taking in patient with hereditary spherocytosis ?
severity of anemia is similar in family members
what does the blood film show in hereditary spherocytosis ?
microspherocytes
reticulocytes
increased osmotic fragility
negative coombs ( excludes AIHA )
what is the treatment of HS ?
splenectomy
what is expected to happen after splenectomy ?
improvement of anemia but microspherocytes still form
what is the most common genetic variant of G6PD ?
type A - african
Type B - western
what is the genetic inheritance associated with G6PD ?
sex linked inheritance
what are the clinical features of G6PD ?
acute hemolytic anemia
neonatal jaundice
what agents can cause G6PD ?
anti malarial medications
fava beans
antihelminths
what are the expected lab investigation results in G6PD ?
normal blood count between crisis
contracted cells
heinz bodies
perform direct enzyme assay
what is the genetic inheritance associated with pyruvate deficiency ?
AR
what does blood film show in pyruvate kinase deficiency ?
poikilocytosis
