geeky medics Flashcards
thalassaemias is a group of genetic disorders that lead to
reduced haemoglobin in red blood cells
alpha genes located on chromosome
16
beta chains located on chromosome
11
alpha thalassaemias will cause an excess of
unpaired beta globin chains and vice versa
when 4 alpha globin genes are affected in thalassaemia it can lead to
hydrops fetalis
blood film of the thalassaemia show what
hypochromic, microcytic
hair on end appearance can be seen on xray in
thalassaemia
what is differentiates thalassaemias from iron deficiency anaemia
thalassaemia has normal ferritin
what is LFTs are raised in thalassaemias
isolated hyperbilirubinemia
what stippling can be seen in thalassaemias
basophil
mx for thalassaemias
regular red cell transfusions to maintain haemoglobin levels
what supplements can be given for thalassaemis
folic acid
thalassaemias inheritance pattern
autosomal recessive
are there the same amount of alpha and beta genes
no there is twice as many alpha genes
hypsplenism increases the risk from infection of what
pneumococcal
leading cause of death in thalassaemias
heart failure secondary to iron induced cardiomyopathy
Vitamin B12 is called
cobalamin
folate is vitamin …
B9
pica and restless leg syndrome can be seen in
iron deficiency
there is a direct correlation between serum ferritin and
overall iron stores in health however serum ferritin is also an acute phase protein
in suspected iron deficiency anaemia. initial screening investigations should include
FBC, CRP and seum ferritin
if iron deficiency the body will produce more what
transferrin
what can predict iron response in patients with CKD
Mean reticulocyte haemoglobin
serum iron is useless. it only measures iron in what state
ferric - FE3