HAEMATINICS Flashcards
What are haematinics
analytes iron, cobalamin and folate
What are Haematinices important for
important markers of anaemia and can increase haemoglobin concentration
What is ferritin
major storage from of iron
where is ferritin stored and what is it composed off
composed of apoferritn and iron phosphate hydroxide core
the amount of circulating ferritin shows ?
the parallel concentration of storage iron
What is Haemosiderin
water insoluble heterogenous iron protein aggregate. long term storage iron. not readily mobilised
what colour is haemosiderin when stained with prussian blue. and when not stained
blue
golden brown
a low ferritin shows what?
iron deficiency
Borderline ferritin levels should be considered in the text of ….
CRP
what the 5 transferrin based measurements
transferrin transferrin saturation . soluble transferrin receptors . unsaturated iron binding capacity total iron binding capacity
variable affecting serum iron also affect what ?
transferrin measurements
main causes of cobalimin deficiency
Intrinsic factor impaired haptocorrin drug/ normal malabsorption in ileum inactivation of nitrous oxide inherited metabolic defect dietary but not as much as folate
folate related deficiency is caused by
mostly dietary jejunal abnormalities drug .induced malabsorption increased requirement . increased loss. acquired defects of folate metabolism. inherited metabolic abnormalities
Cobalamin and folate relate to which anaemia
macrocytic anaemia
where does megablastic name come from
consequence of appearance of BM derived progenitors
what is responsible for morphological findings in megaloblastic anaemia
abnormal DNA
Deficinecy of cobalamin can lead to what ?
neurological degeneration
whats the 8 clinical symptoms of megaloblastic anaemia
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
cord or peripheral nerve syndromes present with :
symmetrical distal sensory symptoms - feet>hands
diminished vibration sense and proprioception in the legs.
impaired distal cutaneous sensation
limb reflexes exaggerated/diminished/absent
lateral column is involved with:
spastic paraparesis
autonomic bladder/ bowel or sexual symptoms
FBC and blood films lack
cobalamin and folate
sensitivity in early deficiency
Serum cobalamin measures both:
Inactive forms: transcobalamin I and holohaptocorrin bound cobalamin
Active form: holotranscobalamin
Total Homocysteine increased in both cobalamin and folate deficiency, BUT
abnormalities can precede symptoms so can be useful
Plasma Methylmalonic acid is increased in Cobalamin deficiency but is also affected by
renal disease, small bowel bacterial overgrowth and haemoconcentration
Intrinsic Factor antibodies should be measured where pernicious
anaemia is suspected
Serum folate can be measured to diagnose deficiency but
must be interpreted in context.
Cobalamin deficiency complicates…
folate interpretation
Genetic Assays can provide ?
genotype and good at identifying mutations. However, if new mutations are detected, then phenotypic characterisation of mutation required to determine structure/function impact.
Phenotypic assays are good for?
Good for case management and can include activity within red blood cells.
G6DP in qualitative test shows
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.
G6DP in quantitative test shows
Provides a precise measurement of G6PD and is normalised against haemoglobin concentration or red cell count. Will detect heterozygous females.
Based on cytochemical reaction causing colour change can be measured by what 2 techniques
Can be measured by microscopy or flow cytometry
Qualitative Fluorescent staining for G6PD activity works by
Fluorescent demonstration of G6PD activity by examining NADPH expression over a 10 minute period. Fluorescence (bright) shows oxidised NAPD is reduced to NADPH.
Diagnosis of Pyruvate Kinase deficiency is based upon what 2 things :
- Demonstrating decreased PK enzyme activity in red cells
2. Identifying causative mutations in the PKLR gene.
How PK deficiency measured
EDTA sample
Results of PK may be affected by
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.
How is EDTA sample reported
Reported as IU/gHb
Phosphoenolpyruvate-Pyruvate-lactate. what becomes between the lines
Phosphoenolpyruvate-Pyruvate is converted by adp to ATP and pyruvate kinase.
Pyruvate is converted too lactate by LDH and NADH to NAD=
What does PK biochemistry test show
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.
