approach to haemoglobinpathies

Question 1

how many genes in alpha globin gene ?

Answer 1

2gene

Question 2

how many genes in beta globin genes ?

Answer 2

1 gene

Question 3

laboratory diagnosis of hemoglobinopathy ?

Answer 3

CBC and blood film , iron studies

Question 4

what can confirm spherocytosis in a blood film?

Answer 4

increased osmotic fragility

Question 5

what is heamoglobin electropheresis?

Answer 5

A hemoglobin electrophoresis test is a blood test used to measure and identify the different types of hemoglobin in your bloodstream

Question 6

what are the levels referred to in haemoglobin electrophoresis referring to ?

Answer 6

the percentages of different type of haemoglobin

Question 7

cellulose acetate vs citrate agar ?

Answer 7

cellulose acetate is more commonly used as it has better seperation

Question 8

what

Answer 8

red cell indicies are useful (MCV and MCH) which are low in thalassemia

Question 9

what type of anemia in thalassemia ?

Answer 9

hypochromic microcytic anemia

Question 10

what is the distinguishing factor between thalassemia and other microcytic anemias?

Answer 10

increased RBC count

Question 11

how do we differentiate between iron deficiency anaemia and thalassemia ?

Answer 11

iron studies

Question 12

what do iron studies include ?

Answer 12

serum ferritin / serum iron
total iron binding capacity
transferrin saturation
ZPP

Question 13

when is ZPP increased?

Answer 13

in low iron levels and lead poisoning

Question 14

when do we consider iron deficiency anemia ?

Answer 14

when serum ferritin is below 12 ng/ml

Question 15

what is the ph of cellulose acetate

Answer 15

alkaline ph of 8.4-8.6

Question 16

what is the ph of citrate agar gel electrophoresis ?

Answer 16

acidic ph

Question 17

what is HPLC?

Answer 17

high performance liquid chromatography which is a method of seperation

Question 18

what is the test for Hb S

Answer 18

sickling in whole blood, sickle cells are seen in thin wet blood film, sealed with paraffin wax

Question 19

what is the HB s solubility test ?

Answer 19

sickle cell Hb is insoluble in high molarity phosphate buffer and forms a turbid solution

Question 20

how can alpha thalassemia be seen in DNA analysis

Answer 20

alpha globin sequencing

MLPA and PCR

Question 21

how can beta thalassemia be detected in DNA analysis

Answer 21

beta globin sequencing

beta globin deletion or duplication test by MLPA

Question 22

if i want to separate Hb s from protein HbC what can i use ?

Answer 22

citrate agar gel electrophoresis

Question 23

what does polychromasia mean ?

Answer 23

increased retics which is a sign of hemolysis

Question 24

what are Heinz bodies a sign of ?

Answer 24

G6PD

Question 25

what is basophilic stippling a sign of ?

Answer 25

lead poisoning