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BPT Haematology > Anaemia and Haemoglobinopathies > Flashcards

Anaemia and Haemoglobinopathies Flashcards

1
Q

In what conditions is there a decrease reticulocyte count?

A

iron/B12/folate deficiency, bone marrow disease, anaemia of chronic disease

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2
Q

In what conditions is there an increased reticulocyte count?

A

haemolysis
thalassaemia
blood loss

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3
Q

What are the causes of microcytic hypochromic anaemia?

A 
iron deficiency
thalassaemia
anaemia of chronic disease
lead poisoning
sideroblastic anaemia
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4
Q

What are the causes of normocytic normochromic anaemia?

A 
renal failure
acute blood loss
primary bone marrow failure
drug induced
anaemia of chronic disease
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5
Q

What are the causes of macrocytic anaemia?

A 
B12/folate deficiency
cytotoxic drugs
alcohol
myelodysplasia
hypothyroidism
chronic liver disease
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6
Q

What does pencil cells on a blood film usually indicate?

A

iron deficiency

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7
Q

What does spherocytes on the blood film usually indicate?

A

haemolysis

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8
Q

What is ferritin?

A

the main cellular storage form of iron

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9
Q

What is the role of hepcidin?

A

to regulate intestinal iron absorption and the distribution of iron to tissues
high hepcidin decreases dietary iron uptake

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10
Q

What causes low hepcidin levels?

A

iron deficiency
hypoxia
erythropoesis

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11
Q

What causes high hepcidin levels?

A

iron excess

inflammation

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12
Q

What happens to hepcidin in chronic haemolytic anaemias and thalassaemias?

A

hepcidin is decreased despite iron overload

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13
Q

What happens to hepcidin in haemochromatosis?

A

innappropriately suppressed

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14
Q

What are the findings on iron studies for iron deficiency anaemia?

A

decreased serum iron
increased serum transferrin and total iron binding capacity
decreased transferrin saturation
decreased serum ferritin

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15
Q

What test is useful to differentiate anaemia of chronic disease with iron deficiency and inflammation?

A

soluble transferrin receptor

only elevated in iron deficiency

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16
Q

What is the structure of haemoglobin?

A

heterotetramer consisting of two pairs of globin polypeptide chains

17
Q

What makes up haemoglobin A?

A

two alpha and two beta chains

18
Q

What makes up haemoglobin A2?

A

two alpha and two delta chains

19
Q

What makes up haemoglobin F (fetal haemoglobin)?

A

two alpha and two gamma chains

20
Q

What causes a left shift of the oxygen dissociation curve?

A

decreased temperature, decreased 2-3 DPG, decreased H+, CO

21
Q

What causes a right shift of the oxygen dissociation curve?

A

increased temp, increased 2-3 DPG, increased H+

22
Q

What makes up haemoglobin H?

A

beta tetramer

23
Q

Why is haemoglobin H unable to deliver oxygen to tissues?

A

because it has high affinity for oxygen (won’t give it up at normal tissue oxygen partial pressures)

24
Q

Where are the haemoglobin genes?

A

alpha gene cluster on short arm of chromosome 16

beta gene cluster on chromosome 11

25
Q

What is the underlying genetic cause of sickle cell anaemia?

A

homozygous valine for glutamic acid in the 6th position of beta chain

26
Q

What is the underlying genetic cause of sickle cell disease?

A

valine for glutamic acid on one beta chain with coinheritence of beta thalassaemia gene

27
Q

What causes haemoglobin E?

A

G->A substitution in codon 26 of the beta globin gene

28
Q

What causes alpha thalassaemia?

A

usually deletion of one or both alpha globin gene

29
Q

What are the consequences of thalassaemia?

A 
increased haemolysis
ineffective/increased erythropoesis
iron overload
extramedullary haemopoesis 
bony expansion (frontal bossing)
high output cardiac failure
osteoporosis
endocrinopathy
renal impairment
30
Q

What is the initial screening test for thalassaemia?

A

HPLC

31
Q

What is the management for transfusion dependent thalassaemia?

A

tranfuse to Hb > 100 to reduce erythropoesis drive

iron chelation

32
Q

What used to be the major cause of death in thalassaemia?

A

cardiomyopathy from iron overload

BPT Haematology (10 decks)

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