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
what is a negative acute phase protein and so decreases in inflammatory states
transferrin
what can help distinguish anaemia of chronic disease from iron deficiency anaemia
soluble transferrin receptors
what can also present with glossitis
vit b12 deficiency
drugs that can decrease levels of vitamin B12
Metformin, anti-convulsants, proton pump inhibitors/H2 antagonists, hormone replacement therapy/combined oral contraceptive pill, colchicine and certain antibiotics
patients who have undergone what surgery can often develop vitamin B12 deficiency
gastric or bariatric
what is the primary investigation for vitamin B12 deficiency
serum cobalamin
blood film may show macrocytosis, hyperhsegmented neutrophils and oval macrocytes in
vit B12 defieicny
if vit B12 deficiency ans has FH of — or personal history of autoimmune condition investigate for
pernicious anaemia
once treatment of IM bit B12 injections what should increase in the first 7-10 days
reticulocyte count
where is folate absorbed
terminal ileum
half of the bodies folate is found where
liver
what is important in DNA synthesis
folate
class of medications that can cause folate deficiency
anti epileptics
average human has how many litres of blood
5
what is the majority of blood
plasma
the Buffy coat consist of
leukocytes and platlets
what are the most numerous of the leukocytes
neutrophils
what are the most common agranular leukocyte
lymphocytes
what cells eradicate virus infected cells
NK
kupffer cells of the liver or microglia of the CNS are what kind of cells
macrophages
triad of hyperviscocity syndrome
visual changes, mucosal bleeding and neurological symptoms
plasma mostly consists of
water
ABO gene is on chromosome
9
if not given anti d infections in negative mother and positive baby the next baby could get
haemolytic disease of the newborn
what invasive procedure might mean you need to give anti D
amniocentesis
what is the only antibody that can cross the placenta
IgG
ABO antibodies are typically
IgM
an ideal blood transition would have
identical ABO and Rh group
what is emergency blood that can be given to everyone
O negative blod
what are not being transfused in plasma exchange
antigens
what is the universal donor for plasma
AB
factor II is usually referred to as
thrombin
what mediates the extrinsic pathway
tissue factor
in the extrinsic pathway, tissue factor combines with factor 7 to form a complex that activates factor
10
factor 10a combines with factor 5 and some other stuff to convert prothrombin into
thrombin (common pathway )
common pathway activates what factor
10
things that inhibit the coagualtion cascade
Protein C, S, antithrombin
when warfarin treatment is initiated what must also be prescribed alongside until the INR is in target range
LMWH
prothrombin time for what pathway
extrinsic
causes of prolonged PT
DIC, vit K deficiency and chronic liver disease
what is the vitamin K dependent clotting factor with the shortest half life
7
prothrombin time forms the basis of what ratio
INR
INR monitors the levels of
anticoagulation
causes of a prolonged APTT
DIC, haemophilia, lupus anticoagulant, von willebrands disease
activation of what clotting factor leads to the conversion of prothrombin into thrombin
10
what is the % of blood that is made up by red cells
haematocrit
3 key causes of secondary polycythaemia to remember
COPD, OSA, cushings syndrome, alcohol
relative polycythameias can be caused by
low fluid intake or burns (states of excess fluid loss)
other cause of macrocytic anaemia
myeloma
raised what can lead to hyper viscosity syndrome
haematocrit
what is anisocytosis
red cells of varying sizes
what reticulocyte count implies a problem with the bone marrow
low
other causes of leukocytosis
steroids, acute leukemias
what white cells account for the majority of them in the blood
neutrophils and lymphocytes
a cause of lymphopenia
HIV
when basophilia is present alongside elevated neutrophil and eosinophil counts or if the elevation is significantly above the normal range, this should raise the suspicion of
myeloproliferative disorder
blasts are usually only found in the bone marrow and high numbers in circulating blood could be caused by a
leukaemia
platelets are what shaped
disc
pregnancy causes of acute thrombocytopenia
pre eclampsia
cause of chronic thrombocytopenia
HIV
what haemolysis is more common
extravascular
extravascular haemolytic occurs primarily in the
spleen
if intravascular haemolytic predominates the patient may complain of what … due to haemoglobinuria
back pain and dark urine
in haemolytic anaemia, urinalysis will show
increased urinary urobilinogen, but conjugated bilirubin will be negative
The presence of blood on a dipstick urine sample but the absence of red cells on microscopy suggests haemoglobinuria, which is seen in
intravascular haemolysis
what is a non specific marker of cell turnover and is significantly raised in haemolytic
serum lactate dehydrogenase
what lab features may show in intravascular haemolysis
decresed plasma haptoglobin and urine dipstick may show haemoglobinuria
is a protein that ‘mops up’ free circulating haemoglobin so that it can be removed by the liver. It will therefore be reduced in intravascular haemolysis as a large amount of free haemoglobin is present in the circulation.
haptoglobin
what may occur after several weeks of intravascular haemolysis
haemosiderinuria
what can be detetected in the urine at least one week after onset of haemosideruria
Prussian blue staining
what is when haptoglobin capacity is depleted and free haemoglobin accumulates in the renal tubules
haemosiderinuria
what test is an important part of the haemolysis screen
Direct Coombs test
The Direct Coombs test identifies red cells coated with… , which suggests an immune cause for the haemolysis
antibody or complement components
what can a hypo chromic microcytic indicate
thalassaemia
what are schistocytes
fragments of red blood cells
schistocytes are seen in the microangiopathic haemolytic anaemia eg
(TTP, HUS, HELLP, and DIC).
what is the other that spherocytes might be seen in
autoimmune haemolysis
heinz bodies and bite cells may be seen in
G6PD deficiency
what is an important cause of autoimmune haemolytic anaemia
CLL
in sickle cell disease what agent reduces haemolysis and crises
Hydroxycarbamide
… is also given as standard in chronic haemolysis even if levels are normal
folate
mutation in what gene in primary polycythaemia
JAK2
2 rf for polycythaemia
advancing age or Budd chairi syndrome
itch particularly after a hot bath
polycythaemia
Erythromelalgia: burning pain, warmth and redness in the hands and feet
polycythaemia vera
in pts with polycythaemia are most thromboses venous or arterial
arterial
what on blood are commonly seen in patients with polycythaemia vera
neutrophilia and thrombocytosis
management that is given for polycythaemia vera
phlebotomy, aspirin, hydroxycarbamide
…It is usually diagnosed by the presence of a raised haematocrit OR red cell mass plus the presence of the JAK2 mutation.
polycythaemia vera
in severe — there is paradoxically simultaneous thrombosis and spontaneous bleeding
DIC
an other cause of DIC
acute pancreatitis
