Haematology - haemachromatosis Flashcards
symptoms
fatigue
hyperpigmentation
diabetes mellitus
arthralgia
most common organ disease
liver cirrhosis
HCC
what bloods are usually elevated?
serum ferritin and iron
transferrin
liver enzymes - AST, ALT
confirm diagnosis
molecular genetic testing
liver biopsy
types
autosomal recessive hereditary type 1
type 2
what is type 2 most associated with?
transfusion
treatment
repeated venesection
diet changes
chelating agents
epidemiology
> 40 years
occurs later in women due to menstruation
what gene is defected?
HFE
what HLA association
HLA A3
inheritance of HFE
autosomal recessive
causes of secondary haemachromatosis
transfusion related
thalassaemia
sickle cell
excess alcohol
what % are asymptomatic?
75
iron chelation drug
deferoxamine
other diagnostic factors
congestive heart failure/cardiomyopathy
arrhythmias
