Hereditary Spherocytosis Flashcards
What is hereditary spherocytosis
RBCs are sphere shaped making them fragile and easily destroyed when passing through the spleen.
Inheritance of hereditary spherocytosis
Autosomal dominant
Presentation of hereditary spherocytosis
Jaundice, anaemia, gallstones, splenomegaly, episodes of haemolytic crisis, often triggered by infections, aplastic crisis
Diagnosis of hereditary spherocytosis
FHx, clinical features, along with spherocytes on blood film, MCHC raised on FBC.
Why are reticulocytes raised
Due to rapid turnover of RBCs
Management of herediary spherocytosis
Folate supplementation and splenectomy, removal of gallbladder if gallstones removed. Transfusions may be rerquired during acute crises
What is hereditary elliptocytosis
RBCs are ellipse in shape and autosomal dominant