HAEMATINICS

Question 1

What are haematinics

Answer 1

analytes iron, cobalamin and folate

Question 2

What are Haematinices important for

Answer 2

important markers of anaemia and can increase haemoglobin concentration

Question 3

What is ferritin

Answer 3

major storage from of iron

Question 4

where is ferritin stored and what is it composed off

Answer 4

composed of apoferritn and iron phosphate hydroxide core

Question 5

the amount of circulating ferritin shows ?

Answer 5

the parallel concentration of storage iron

Question 6

What is Haemosiderin

Answer 6

water insoluble heterogenous iron protein aggregate. long term storage iron. not readily mobilised

Question 7

what colour is haemosiderin when stained with prussian blue. and when not stained

Answer 7

blue

golden brown

Question 8

a low ferritin shows what?

Answer 8

iron deficiency

Question 9

Borderline ferritin levels should be considered in the text of ….

Answer 9

CRP

Question 10

what the 5 transferrin based measurements

Answer 10

transferrin
transferrin saturation .
soluble transferrin receptors .
unsaturated iron binding capacity
total iron binding capacity

Question 11

variable affecting serum iron also affect what ?

Answer 11

transferrin measurements

Question 12

main causes of cobalimin deficiency

Answer 12

Intrinsic factor 
impaired haptocorrin
drug/ normal malabsorption in ileum
inactivation of nitrous oxide 
inherited metabolic defect 
dietary but not as much as folate

Question 13

folate related deficiency is caused by

Answer 13

mostly dietary 
jejunal abnormalities drug .induced malabsorption  
increased requirement .
increased loss.
acquired defects of folate metabolism.
inherited metabolic abnormalities

Question 14

Cobalamin and folate relate to which anaemia

Answer 14

macrocytic anaemia

Question 15

where does megablastic name come from

Answer 15

consequence of appearance of BM derived progenitors

Question 16

what is responsible for morphological findings in megaloblastic anaemia

Answer 16

abnormal DNA

Question 17

Deficinecy of cobalamin can lead to what ?

Answer 17

neurological degeneration

Question 18

whats the 8 clinical symptoms of megaloblastic anaemia

Answer 18

lethargy
weakness 
yellow or waxy pallor
glottis with beefy red tongue / smooth pale tongue 
loss of appetite / weight
neurological symptoms in cobalamin deficiency 
peritheral neuropathy 
cognitive decline

Question 19

cord or peripheral nerve syndromes present with :

Answer 19

symmetrical distal sensory symptoms - feet>hands
diminished vibration sense and proprioception in the legs.
impaired distal cutaneous sensation
limb reflexes exaggerated/diminished/absent

Question 20

lateral column is involved with:

Answer 20

spastic paraparesis

autonomic bladder/ bowel or sexual symptoms

Question 21

FBC and blood films lack

cobalamin and folate

Answer 21

sensitivity in early deficiency

Question 22

Serum cobalamin measures both:

Answer 22

Inactive forms: transcobalamin I and holohaptocorrin bound cobalamin
Active form: holotranscobalamin

Question 23

Total Homocysteine increased in both cobalamin and folate deficiency, BUT

Answer 23

abnormalities can precede symptoms so can be useful

Question 24

Plasma Methylmalonic acid is increased in Cobalamin deficiency but is also affected by

Answer 24

renal disease, small bowel bacterial overgrowth and haemoconcentration

Question 25

Intrinsic Factor antibodies should be measured where pernicious

Answer 25

anaemia is suspected

Question 26

Serum folate can be measured to diagnose deficiency but

Answer 26

must be interpreted in context.

Question 27

Cobalamin deficiency complicates...

Answer 27

folate interpretation

Question 28

Genetic Assays can provide ?

Answer 28

genotype and good at identifying mutations. However, if new mutations are detected, then phenotypic characterisation of mutation required to determine structure/function impact.

Question 29

Phenotypic assays are good for?

Answer 29

Good for case management and can include activity within red blood cells.

Question 30

G6DP in qualitative test shows

Answer 30

G6PD activity measured but only determined to be above or below a certain threshold, for example 30% of normal = deficient.. Heterozygote females (activity can be 30-80%) may be missed.

Question 31

G6DP in quantitative test shows

Answer 31

Provides a precise measurement of G6PD and is normalised against haemoglobin concentration or red cell count. Will detect heterozygous females.

Question 32

Based on cytochemical reaction causing colour change can be measured by what 2 techniques

Answer 32

Can be measured by microscopy or flow cytometry

Question 33

Qualitative Fluorescent staining for G6PD activity works by

Answer 33

Fluorescent demonstration of G6PD activity by examining NADPH expression over a 10 minute period. Fluorescence (bright) shows oxidised NAPD is reduced to NADPH.

Question 34

Diagnosis of Pyruvate Kinase deficiency is based upon what 2 things :

Answer 34

1. Demonstrating decreased PK enzyme activity in red cells | 2. Identifying causative mutations in the PKLR gene.

Question 35

How PK deficiency measured

Answer 35

EDTA sample

Question 36

Results of PK may be affected by

Answer 36

Raised reticulocytes Incomplete removed of Platelets and WBC Presence of transfused red cells Presence of the PK M2 isoenzyme (Muscle form, but also an important tumour marker) Mutated PK that behaves ‘normally’ under in vitro conditions but ‘abnormally’ in vivo.

Question 37

How is EDTA sample reported

Answer 37

Reported as IU/gHb

Question 38

Phosphoenolpyruvate-Pyruvate-lactate. what becomes between the lines

Answer 38

Phosphoenolpyruvate-Pyruvate is converted by adp to ATP and pyruvate kinase. Pyruvate is converted too lactate by LDH and NADH to NAD=

Question 39

What does PK biochemistry test show

Answer 39

In the presence of Pyruvate and LDH, the concentration of NADH reduces as it is oxidised to NAD+. This causes the optical density of NADH to decrease (when using spectrophotometry @340nm) as NAD+ accumulates. Where PK is deficient, [pyruvate] is reduced resulting in an increased NADH and high optical density.