A 26 year old woman was admitted with weakness, dyspnea and palpitation. On examination you notice severe pallor. She recently had an episode of viral infection. LFT showed elevated bilirubin levels. USG showed splenomegaly and gallstones. You happened to notice that the mother of the woman who was standing beside her was also pale. On examination she had splenomegaly. What is the probable diagnosis?
Hereditary spherocytosis is an autosomal dominant condition. The major clinical features include anaemia, splenomegaly, jaundice and pigment gallstones. Here she seems to have had a parvovirus infection which precipitated an aplastic crisis which led to her sudden worsening of anemia. G6PD is seen in males. Ref: Pathology Quick Revision by Harsh Mohan, Edition 4, Page 216
Gilbe's syndrome
Hereditary spherocytosis
G6PD
PNH