Answer: Bernard Soulier syndrome, bleeding disorder characterized by thrombocytopenia and large platelets. Autosomal recessive inheritance. Presentation consistent with low or dysfunctional platelets and include easy bruising, nosebleeds, mucosal bleeding, menorrhagia, and, occasionally, GI bleeding.
Answer: Hairy cell leukaemia. Nucleated red cells seen, and lymphocytes with fine villous projections. Hairy cells have a mature B-cell phenotype, and may express CD19, CD20, CD22, and CD79a, hoever they also typically express CD103, CD11c, and CD25, which are helpful in making diagnosis.
Answer: APML. Multiple auer rods stacked on top of each other, ? sometimes referred to as a faggot cell.
Immediate plan would be to check coag ? DIC, and commence ATRA. Bone marrow to confirm diagnosis and assess cytogenetics – t(15:17)
Findings: targets, NRBCs, hypochromic red cells, howell jolly bodies
Answer: Beta thalassaemia, splenectomy.
Findings: anisopoikilocytosis, macrocytic red cells, pelger Huet neutrophil, tear drops
Answer: ? MDS. ? MPD. FBC, B12/folate, Bone marrow to confirm diagnosis.