Haematology Flashcards
What is the inheritance pattern of von Willebrand disease?
Autosomal dominant
What are the features of Fanconi anaemia ?
Macrocytic anaemia Pancytopenia in 50% Cafe au lait spots 50% Short stature 50% Thumb / radial anomalies Microcephaly Abnormal gonads Eye anomalies Structural renal defects Dev delay
Cancer predisposition in 10-30%
Can have VACTERL associations
What organisms would a person with sickle cell anaemia be most vulnerable to?
Strep pneumoniae Neisseria meningidites Klebsiella pneumoniae Haemophilus influenzae Salmonella typhi Cryptococcus neoformans Pseudomonas aeruginosa
Ie encapsulated organisms due to functional asplenia
What condition is the finding of Birbeck granules on electron microscopy pathognemonic for?
Langerhans cell histiocytosis
What condition should you suspect with immunohistochemistry findings of large cells positive for S-100 and CD1a protein ?
Langerhans Cell Histiocytosis
How do you distinguish between haemophilia and lupus anticoagulant on mixing studies ?
Both have prolonged APTT
Haemophilia corrects with mixing studies
Lupus does not (or inhibitor)
What is the cause of these blood results?
Prolonged APTT
Prolonged thrombin time
Normal reptilase
Heparin effect
Reptilase assesses fibrinogen
Which type of haemophilia is most at risk of developing inhibitors ?
Severe haemophilia A 30%
Sickle cell disease blood film will show Howell jolly bodies - T/F
True
What is a distinguishing feature on blood film of G6PD?
Heinz bodies
Name 3 causes of shistocytes on blood film
Microangiopathic haemolytic anaemia HUS
DIC E.g. Kassabach Merritt
Malignancy
What stain is used to differentiate AML from ALL?
Myeloperoxidase
What are Auer rods suggestive of?
AML
What are Reed Sternberg cells suggestive of?
Hodgkin Lymphoma
What are Dohle bodies suggestive of ?
Located in neutrophils, marker of inflammation
What are hypersegmented neutrophils suggestive of?
B12/ folate deficiency
On an iron stain what are ringed sideroblasts suggestive of?
Mitochondrial disorders
What should normal RBC look like on film at birth?
Macrocytic normochromic
When are Beta chains produced?
From 4-6 months
What chromosome is Beta chain gene located on?
11
What chromosome is alpha chain gene located on?
16
What is raised HbA2 diagnostic for ? (Alpha 2, delta 2)
Beta thal
What is foetal haemoglobin composed of?
Alpha 2
Gamma 2
In alpha thalassaemia what is the consequence of 3 gene deletion?
HbH (4 beta chains)
In alpha thalassaemia what is the consequence of 4 gene deletion ?
HbBarts
4 gamma chains
What vitamin deficiency is suggested by raised MMA and homocysteine?
B12
NB folate def : normal MMA raised homocysteine
Which immunoglobulin is associated with warm type autoimmune haemolytic anaemia ?
And cold?
Warm IgG
Cold IgM
Name 4 causes of haemoglobinuria due to intravascular haemolysis
Oxidant haemolysis G6PD ABO incompatibility Cold type AIHA Paroxysmal nocturnal haemoglobinuria Malaria
What is the inheritance of G6PD?
X linked
What organisms are patients susceptible to in sickle cell disease?
Encapsulated
Due to splenic sequestration
Strep pneumoniae
Salmonella - cause of osteomyelitis
Name two types of congenital neutropenia syndromes
Kostmann
Schwachman diamond
What do you see on blood film of ITP?
Few but large platelets
What is the treatment for life threatening bleeding due to ITP ?
Methylpred IV Platelet transfusion Recombinant factor VIIa IVIG Urgent splenectomy
What is the commonest antibody found in neonatal alloimmune thrombocytopenia ?
Anti HPA 1 a
What condition would you see giant platelets on film?
What is the defect ?
Bernard soulier
Glycoprotein 1 b deficiency - don’t aggregate
What syndrome should you suspect ? Bleeding due to plt dysfunction Albinism Photophobia Pyogenic infections Peripheral neuropathy
Chediak higashi
What is the inheritance of haemophilia ?
X linked recessive
What is the severity of Haemophilia A based on factor levels ?
<1 % severe
1-5% moderate
5-50% mild
What should you suspect in haemophilia A if APTT does not correct with mixing ?
Inhibitor
What are the types of vWF deficiency ?
Type 1 - decreased amount normal multimer
Type 2 - decreased amount and abnormal
Type 3 - virtual absence
What is the treatment for vWF def?
Desmopressin
Increases release of vWF from endothelial cells
What should warfarin do to coags?
Prolonged PT
What should heparin do to coags?
Prolonged APTT
Does not correct with mixing
Does not change with reptilase time