Anaemia

Question 1

what is the definition of anaemia

Answer 1

low level of Hb in blood

Question 2

what does MCV, MCH mean

Answer 2

mean corpuscular volume, indicates SIZE of RBC,

MCH = ave amount of Hb in each RBC

Question 3

what is ferritin and folate and b12?

Answer 3

ferritin - intracellular protein that stores iron
folate - many forms of vitamin b9, including folic acid

b12 and folate work to make erythrocytes. makes up Hb

Question 4

what are the general symptoms of anaemia

Answer 4

tiredness
SOB
headaches
dizziness
palpitations
worsening of other conditions such as angina

Question 5

generic signs of anaemia

Answer 5

pale skin
conjuctival pallor
tachycardia
raised resp rate

Question 6

other specific signs of anaemia

Answer 6

koilonychia
angular chelitis
smooth tongue
jaundice - haemolytic

Question 7

what lab tests can you do for anaemia

Answer 7

haematocrit= what % of blood is taken up by red cells
normal - 40%

Hb concentration

MCV - macrocytic or microcytic

reticulocyte count: low = cause of anaemia is due to reduced production
high = being made ok but destroyed prematurely

red cell morphology: hypochromic, spherocytic etc

Question 8

what further investigations should you do for anaemia?

Answer 8

oesphago-gastroduodenoscopy and colonoscopy for GI bleed

bone marrow biopsy

Question 9

what are the microcytic anaemias, and what are the features?

Answer 9

low MCV, low MCH
causes:
TAILS

thalassameias
anaemia of chronic disease
iron deficiency anaemia
lead poisoning
sideroblastic anaemia

Question 10

what is IDA

Answer 10

inadequate iron containing foods in diet, or malabsorption, or blood loss

causes:

• physiological eg menarche, pregnancy
• neonatal: prematurity, LBW
• diet
• GIT: bleeding/NSAID’s/cancers

Question 11

how do you diagnose IDA

Answer 11

low hb, low MCV, low MCH

Question 12

specific symptoms to IDA

Answer 12

headache, esp with activity 
craving for non-food items 
smooth tongue
brittle nails or hair loss
koilonychia

Question 13

how do you manage IDA

Answer 13

100-200mg elemental iron dialy eg

ferrous fumarate 210mg 2-3 times a day: raises Hb by 0.1 a day
treat till it is normal then 3 months after and maybe maintenance dose

Question 14

what are side effects and contraindications of IDA

Answer 14

gi: nausea, black stools

may change to ferrous sulfate

• thyroxine tablets and antibiotics: take few hours apart

take with orange juice or on an amepty stomach

Question 15

what is thalassaemia

Answer 15

absence of alpha globin or beta globin chains which are used for erythropoesis to form hb

Question 16

what is beta thalassaemia

Answer 16

beta thalassaemia minor: 1 abnormal, and has raised HbA2 = mild microcytic
BT major has 2 abnormal genes = only HbF

Question 17

what is alpha thalassaemia

Answer 17

4 genes:
1 deletd = clinically silent 
2- AT trait 
3- haemoglobin H disease
4 - bart's hydrops fetalis

Question 18

what is the pathophys of thalassaemia

Answer 18

RBCs are more fragile and break down more easily
- spleen acts as a sieve to filter the blood and remove older blood cells but in thalassaemia spleen collects all the destroyed RBCs = splenomegaly

-bone marrow expands to produce extra RBCs to compensate for ammonia = susceptibility to fractures and bony features

Question 19

what are the signs and symptoms of thalassaemia

Answer 19

low MCV 
fatigue 
pallor 
jaundice 
gallstones 
splenomegaly 
poor growth and development

Question 20

how do you diagnose thalassaemia

Answer 20

FBC to show microcytic
Hb electrophoresis = globin abnormalities
DNA testing for genetic components

Question 21

what is iron overload and what are the symptoms? (same symptoms as haemochromatosis)

Answer 21

result of faulty creation of RBCs, recurrent transfusions and increased absorption of iron in response to anaemia

fatigue, liver cirrhosis, infertility, heart failure, arthritis, diabetes and osteoporosis and joint pain

Question 22

how do you manage thalassaemia?

Answer 22

long term blood transfusions, iron chelation (removal of iron excess by increasing excretion in urine or faeces)

• desferrioxamine, deferipone, deferasirox infusion over 8-12 hours, 5 nights per week

deferasirox is the first line for treatment > age 6

Question 23

what are the side effects of DFP, DFX

Answer 23

painful, local inflammation, poor compliance, potential neuro and skeletal toxicity

Question 24

what is macrocytic anaemia

Answer 24

high MCV - large RBCs
megaloblastic or normoblastic

megaloblastic = impaired DNA synthesis, preventing cell from dividing normally

rather than dividing = grows into larger or abnormal cell and is caused by b12 or folate def

Question 25

pathophys of vitamin b12 deficiency

Answer 25

haptocorrin etc LOOK AT NOTES

Question 26

what causes acquired b12 deficiency

Answer 26

``` nutritional - vegan, poor diet, pregnancy malabsorption: -gastric: surgery, pernicious anaemia -intestine -crohn's, coeliac etc ```

Question 27

what is acquired folate deficiency syndrome

Answer 27

``` nutritional - poor diet, goat's milk intestinal - coeliac, jejunal resection excessive requirement eg pregnancy increased turnover like chronic haemolysis excess loss like dialysis ```

Question 28

how do you manage folate deficiency anaemia

Answer 28

folic acid 5mg daily for 4 months - for undiagnosed anaemia: never give folic acid alone, give with vit b12 concurrently

Question 29

what are the signs and symptoms of b12 or folate deficiency

Answer 29

``` insidious onset mild jaundice and anaemia glossitis angular chelitis neuropathy ```

Question 30

how do you treat vit b12 deficiency

Answer 30

hydroxocobalamin: every couple of days until stores replenished then every 2-3 months cyanacocabalamin

Question 31

other than megaloblastic anaemia, what are the other causes of macrocytosis?

Answer 31

- alcohol - pregnancy - drugs like chemotherapy (anti-folates etc) - liver disease - reticuloycytosis - hypothyroidism

Question 32

what is normocytic anaemia and what causes it?

Answer 32

normochromic and normal MCV but low Hb. central pallor <33% 3 A's 2 H's -acute blood loss (bc blood cells left are normal but hb conc takes time to lower so may not be immediate) - anaemia of chronic disease -aplastic anaemia h-haemolytic h-hypothyroidism

Question 33

hepcidin and ferroportin pathophysiology

Answer 33

??? notes

Question 34

what is haemolytic anaemia and what are the different types?

Answer 34

anaemia due to destruction, rather than underproduction, of RBC - hereditary spherocytosis - elliptocytosis - stomatocytosis - G6PD and PK deficiency - auto-immune haemolysis (Acquired)

Question 35

how do you diagnose the haemolytic anaemias?

Answer 35

blood films bilirubin specific: coomb's test, ema-bonding, G6PD level, Hb identification

Question 36

what is spherocytosis

Answer 36

autosomal dominannt inherited abnormalities of red cell membrane proteins = RBCs are sphere and fragile and broken down when passing through the spleen

Question 37

what are the symptoms and signs of hereditary. spherocytosis and how do you treat it

Answer 37

jaundice chronic haemolysis gall stones - give folic acid regularly - may need splenectomy

Question 38

how do you diagnose HS?

Answer 38

- family history - reticulocyte count - MCHC raised on blood film if all that negative, use EMA-binding: binds to eryhtrocyte membrane proteins and if they have it the fluorescence is weaker cos missing proteins

Question 39

what is G6PD?

Answer 39

x linked recessive disease, usually healthy between attacks. often FH of jaundice - sudden onset of feeling unwell, lack of energy, jaundice, back ache, dark coloured urine

Question 40

what is PK defieciency

Answer 40

autosomal recissive -protruding spikes on RBCs -chronic haemolysis may need splenectomy

Question 41

what is AIHA

Answer 41

auto-immune haemolysis - warm and cold (what temp the antibody is active) - need a blood fillm and a positive DAT or coomb's

Question 42

what causes AIHA

Answer 42

warm: idiopathic, or rheumatoid disease, CLL cold: idiopathic, or EBV, ulcerative colitis

Question 43

how do you manage AIHA

Answer 43

steroids: prednisolone | dont transfuse patients unless severely visibly unwell

Question 44

what is SCA

Answer 44

beta globin variant, co-dominant | carriers HbAs normal, usually HbSS = patient has no normal Hb

Question 45

what is a sickle cell crisis, how are the different types managed?

Answer 45

for example, painful crisis: blood supply to bone is blocked and hence bone infarction and painful - NSAID's at home or ICU opiates if severe chest crises: sickling in alveoli abdomen: sickling in ometum - blood supply to brain gets cut off = stroke, so preventions like reg blood transfusions

Question 46

what is the pathophys of SCA

Answer 46

most RBCs are disc shaped, and agglomerate with platelets and neutrophils to form clots that block off RBCs to rest of the body - scd does not affect fetuses because the fetal hb have gamma chains not beta

Question 47

how do you manage long term SCA

Answer 47

- penicillin and folic acid - pneumovax to maintain immunity to pneumonia - hydroxyurea (demethylating and switching ON their fetal Hb gene) - stem cell transplant