Hereditary Haemolytic Anaemias

Question 1

Hypotonic lysis test

Answer 1

Main use for HS
Déterminés surface area: vol
Mix blood w graded concentrations of hypotonic saline and measure lysis colorimetrically
plot and the lysis from each of 12 tubes to create fragility curve

Question 2

Factors affecting osmotic fragility test

Answer 2

Vol of hypotonic saline mix
Temperature
Ph- fragility increased by decreases. Ph

Question 3

Increased osmotic fragility

Answer 3

He, elliptocytosis, hereditary stomatocytosis, Aiha( due to spherocytes)

Question 4

Decreased osmotic fragility

Answer 4

Thalassaemia, iron def anaemia,
May have dec in hereditary enzyme disorders due to inc in reticulocyte count
Hereditary xerostomatosis

Question 5

False positive - dec osmotic fragility not due to hs

Answer 5

Pregnancy
Haemolysis
Renal failure(?pH issue)

Question 6

Best test for HS ne principle

Answer 6

Flow looking at eosin-5- malaise labelled red cells

Question 7

Results ema

Answer 7

a ratio of mean value of the test to control sample.

a ratio of 0.8 or more is regarded as normal.

Question 8

Acidified glycerol lysis time test

Answer 8

Same principle- looking at lysis based on surface area:volume
Good for screening family if known HS and minimal morphology
Use acid and glycerol

Question 9

Autohaemolysis test-
1 with glucose
2 sans glucose

Answer 9

Normal blood there is minimal lysis- even less w glucose
Defects 1. If the result is entirely normal, an intrinsic red cell abnormality is unlikely. 2. If abnormal haemolysis is fully corrected by glucose, a metabolic abnormality is unlikely and a membrane abnormality is likely. 3. If abnormal haemolysis shows little or no correction by glucose, a metabolic abnormality is likely, provided that obvious features of spherocytosis are not present on the blood film.

Question 10

Autohaemolysis test-
1 with glucose
2 sans glucose

Answer 10

Normal blood there is minimal lysis- even less w glucose
Defects 1. If the result is entirely normal, an intrinsic red cell abnormality is unlikely. 2. If abnormal haemolysis is fully corrected by glucose, a metabolic abnormality is unlikely and a membrane abnormality is likely. 3. If abnormal haemolysis shows little or no correction by glucose, a metabolic abnormality is likely, provided that obvious features of spherocytosis are not present on the blood film.

Question 11

What genetic abn found in 20%babeie s iif mum w AFLP

Answer 11

LCAT deficiency

Question 12

False elevation of retic count

Answer 12

Neonatal
Post spleen
High wbc or nrc count abn lymph’s
Hj bodies
Cold agg
Large plts
Malaria
Heinz bodies

Question 13

Disease associated with Heinz bodies

Answer 13

G6pd
Nadph
Chronic liver dx
Alpha thal