Haem MedGems Flashcards
What is the inheritance pattern of hereditory elliptocytosis?
Autosomal dominant
What is the most common cause of iron deficiency anaemia in the developing world?
Hookworm
What protein is classically mutated in hereditary spherocytosis?
Spectrin
What is the classical inheritance pattern of G6PD deficiency?
X-linked recessive
Which haemoglobin chain is mutated in sickle cell disease?
Beta globin
When can glucose-6-phosphate dehydrogenase levels be normal in someone with deficiency?
During an acute haemolytic crisis to reflect and increase in RBC production
What protein is typically defective in hereditary elliptocytosis?
Spectrin
What is the most sensitive biomarker for iron deficiency anaemia?
Serum ferritin
Will be falsey raised in inflammatory states
A 49 year old man is reviewed by his GP after his blood tests suggested a new microcytic anaemia.
His ferritin and serum iron is low. His full blood count, CRP, renal function, LFTs, B12 and folate are otherwise normal.
A blood film reveals the presence of hypochromic erythrocytes with pencil cells.
What is the next most appropriate blood test to request, prior to an OGD and colonoscopy?
Anti-TTG
(always assume coeliac/ malabsorption for males with iron deficiency anaemia)
What is the most common cause of B12 deficiency in the UK?
Pernicious anaemia
What is the MCV in aplastic anaemia?
Raised
Macrocytosis results from release of fetal haemoglobin to compensate for reduced red cell production
What are the primary causes of aplastic anaemia?
- Fanconi anaemia
- Dyskeratosis congenita
What are the secondary causes of aplastic anaemia?
- Viruses
- SLE
- Drugs
- Radiation
What are Howell Jolly bodies?
Nuclear remnents of DNA in erythrocytes that are removed by the spleen
What is anisocytosis?
RBCs of different sizes
IDA is the most common cause
