Y3 AFT 2 Flashcards
What is G6PD deficiency?
Agenetic disorder causing deficiency in glucose 6 phosphate which is an enzyme used to prevent against oxidative stress.
It can lead to haemolytic anaemia when the person is exposed to triggers such as infections.
Reticulocyte count is usually lowered in autoimmune haemolytic anaemia. True/false?
False
Usually raised reticulocyte count
What do intravascular causes of haemolysis usually present with?
Presents with abnormal breakdown products such as haemoglobinuria (resulting in pink urine) and hemoglobinemia (detected by low haptoglobin which is what binds free Hb in the blood).
What are the only 2 causes of intravascular haemolytic anaemia?
Alloimmune and G6PD are however the only intravascular causes (where the red cells are destroyed within the circulation), the rest being extravascular.
What are features of extravascular haemolysis?
Extravascular haemolysis leads to release of protoporphyrin (unconjugated bilirubin) in the blood and in urine and this leads to symptoms such as jaundice and gall stones.
Both alloimmune haemolytic anaemia and G6PD deficiency are intrvascular causes. How can they be differentiated?
G6PD deficiency mostly associated with African ethnicity and has a strong family history. Triggered by foods (fava beans), medications and infections.
Alloimmune haemolytic anaemia is related to a blood trigger (often incompatible transfusion).
What type of anaemia is pernicious anaemia?
Macrocytic megaloblastic anaemia
What antibodies are associated with pernicious anaemia?
Intrinsic factor antibodies.
What are the causes of microcytic anaemia (TAILS)?
Mnemonic: TAILS
Thalassaemia
Anaemia of chronic disease
Iron deficiency anaemia
Lead poisoning
Sideroblastic anaemia
What are causes of normocytic anaemia (ABCD)?
Mnemonic: ABCD
Acute blood loss
Bone marrow failure
Chronic disease
Destruction (haemolysis)
What are causes of macrocytic anaemia (FAT RBC)?
Mnemonic: FAT RBC
Foetus (pregnancy)
Alcohol excess
Thyroid (hypothyroidism)
Reticulocytosis
B12/folate deficiency
Chronic liver disease/cirrhosis
What is sideroblastic anaemia?
When bone marrow produces ringed sideroblasts instead of healthy RBC’s.
In sideroblastic anaemia, the body contains iron however cannot incorporate it into haemoglobin leading to iron overload.
What is a blood film feature of sideroblastic anaemia?
Pappenheimer bodies
What is the appearance of Pappenheimer bodies on blood film?
Pappenheimer bodies within RBCs appear as pyknotic violet dots (MG Giemsa stain) and appear blue with Perl’s Prussian blue stain for iron.
What is the most appropriate eradication therapy for MALT lymphoma?
MALT lymphoma is a type of non-hodgkin lymphoma. Treatment involves eradication of H.pylori in gastric MALT lymphoma.
Treatment:
Omeprazole, amoxicillin and clarithromycin
Eradication therapy for gastric MALT lymphoma in those with a penicillin allergy?
Omeprazole, metronidazole and clarithromycin.
Amoxicillin is replaced with metronidazole
Polycythemia carries a reduced risk of thrombosis. True/false?
False
Polycythemia carries increased thrombosis risk.
What is treatment of polycythemia vera?
Aspirin
Polycythemia vera is a malignancy characterised by high RBC count. Carries an increased risk of thrombosis so aspirin is used to reduce the risk.
Antibiotics play no role in the prevention of polycythemia vera. True/false?
True
Which test that is most useful for monitoring the therapeutic effect of Warfarin?
INR (international normalised ratio)
What are neutrophils and their blood film appearance?
Neutrophils are the most abundant type of white blood cells and have multi-lobed nuclei.
Function of neutrophils?
They are primarily involved in combating bacterial infections through phagocytosis (engulfing and destroying bacteria).
What are lymphocytes and their blood film appearance?
Lymphocytes have a large, round nucleus that occupies most of the cell.
Function of lymphocytes?
They play a key role in the immune response, including the production of antibodies and coordination of the body’s immune defenses.
What are monocytes and their blood film appearance?
Monocytes are larger cells with a kidney-shaped or horseshoe-shaped nucleus.
Function of monocytes?
They are precursors to tissue macrophages and play a role in engulfing pathogens, cellular debris, and foreign substances.
What are eosinophils and their blood film appearance?
Eosinophils have bi-lobed nuclei and distinctive red-orange granules in their cytoplasm.
Functions of eosinophils?
They are involved in allergic reactions and defense against parasitic infections.
What are basophils and their blood film appearance?
Basophils have a lobed or irregularly shaped nucleus and large, dark-staining granules in their cytoplasm.
Function of basophils?
Basophils release histamine and other chemicals involved in inflammatory and allergic responses.
Characteristic features of anti-phospholipid syndrome?
Characterised by recurrent thrombotic events i.e. recurrent miscarriages and ischemic stroke.
Underlying pathology of anti-phospholipid syndrome?
In antiphospholipid syndrome, the autoantibodies cause a conformational change in B2 glycoprotein which leads to activation of both primary and secondary haemostasis and vessel wall abnormalities.
What is Factor V Leiden deficiency?
A point mutation of factor V resulting in an elimination of the cleavage site in factor V and factor Va.
This genetic defect increases the risk of thrombosis.
What differentiates factor V Leiden deficiency from anti-phospholipid syndrome?
Factor 5 Leiden deficiency is another example of a thrombophilia (abnormal tendency to form clots) however it is inherited rather than acquired like anti-phospholipid syndrome.
What does Factor V Leiden deficiency typically present with?
Factor 5 Leiden is most likely to present with a pulmonary embolism or DVT.
Inheritance pattern of factor V Leiden deficiency?
Autosomal dominant