HA

Question 1

What is anaemia?

Answer 1

→reduced haemoglobin level for the age and gender of the individual

Question 2

What is haemolytic anaemia?

Answer 2

→anaemia due to shortened RBC survival

Question 3

What is the difference in Hb between neonates and infants?

Answer 3

→Hb is higher than in infants

Question 4

How long do RBCs go without nuclei or cytoplasmic cells?

Answer 4

→120 days

Question 5

What is the width of capillaries?

Answer 5

→3.5 microns

Question 6

How are senescent RBCs removed?

Answer 6

→RES by the liver and spleen

Question 7

Describe haemolysis

Answer 7

→Shortened red cell survival 30-80 days
→Compensation by Bone marrow to increase production
→Increased young cells in circulation = Reticulocytosis +/- nucleated RBC
→RBC production unable
to keep up with decreased RBC life span
→Decreased Hb

Question 8

What is incomplete compensated haemolysis?

Answer 8

→RBC production unable

to keep up with decreased RBC life span

Question 9

Why does reticulocytosis occur?

Answer 9

→due to reduced Hb
→the bone marrow may increase its output of red cells
→expanding the volume of active marrow

Question 10

What are the clinical findings of haemolytic anaemia?

Answer 10

→Jaundice- increase in unconjugated bilirubin
→Pallor
→Fatigue
→Splenomegaly

Question 11

What are the chronic clinical findings of haemolytic anaemia?

Answer 11

→Gallstones - pigment
→Leg ulcers- local ischemia
→Folate deficiency - (increased use)

Question 12

What are the lab investigations for HA?

Answer 12

→Peripheral blood film

Question 13

What are features of the lab investigations for HA?

Answer 13

→polychromatophilia(much bigger),
→nucleated rbc,
→ thrombocytosis;
→neutrophilia with left shift

Question 14

What do morphological clues of HA lead to?

Answer 14

→underlying disorder

Question 15

What are some morphological abnormalities of HA?

Answer 15

→Spherocytes,
→Sickle cell, Target cells,
→Schistocytes (fragmented, triangular rbc)
→acanthocytes

Question 16

What are the bone marrow findings of HA?

Answer 16

→Erythroid hyperplasia of BM
→normoblastic reaction
→Reversal of Myeloid: Erythroid ratio
→Reticulocytosis

Question 17

What are other findings of HA?

Answer 17

→Increased unconjugated bilirubin		
→Increased LDH (lactate dehydrogenase)	
→Decreased serum haptoglobin protein that binds free Hb
→Increased urobilinogen
→Increased urinary hemosiderin

Question 18

What is hemosidirin?

Answer 18

→brown iron-containing pigment usually derived from the disintegration of extravasated red blood cells

Question 19

What are the different classifications of haemolytic anaemias?

Answer 19

→Inheritance
→Site of RBC destruction
→Origin of RBC damage

Question 20

What are the inheritance classification of HA?

Answer 20

→hereditary eg Hereditary spherocytosis

→acquired eg Paroxysmal nocturnal haemoglobinuria, IHA

Question 21

What are classifications of sites of RBC production in HA?

Answer 21

→intravascular eg Thrombotic thrombocytopenic purpura, haemolytic transfusion
→ extravascular eg Autoimmune haemolysis

Question 22

What are the classifications of origin of RBC damage in HA?

Answer 22

→Intrinsic (Intracorpuscular) eg G6PD deficiency
→Extrinsic
(Extracorpuscular) eg Delayed haemolytic transfusion reaction, Infections

Question 23

What are some problems in intrinsic HA?

Answer 23

→Membrane defects
→Enzyme defects
→Haemoglobin defects

Question 24

What are some problems in immune-mediated HA?

Answer 24

→Autoimmune

→Alloimmune

Question 25

What things induce autoimmune HA?

Answer 25

→warm weather →cold weather → drug induced

Question 26

What are some problems in extrinsic HA?

Answer 26

``` →Red cell fragmentation syn →Microangiopathic HA- caused by fibrin or vascular endothelium →Infections: Malaria, clostridium →March haemoglubinuria →Hypersplenism ```

Question 27

What is involved in the management of HS?

Answer 27

→Monitor →Folic acid →Transfusion →Splenectomy

Question 28

What are the observations in HS?

Answer 28

→microspherocytes- →no central pallor, →polychromatophilic- →increased in RNA, no biconcave

Question 29

What are the observations in HE?

Answer 29

→elongated with no pointed ends

Question 30

What are the clinical features of HS?

Answer 30

→Asymptomatic until more severe haemolysis →Neonatal jaundice →Jaundice, splenomegaly, pigment gallstones →*Reduced eosin-5-maleimide (EMA) binding – binds to band 3- flow cytometry →Positive family history →Negative direct antibody test →Pigment gallstones

Question 31

What is used to test for HS?

Answer 31

→eosin-5′-maleimide (EMA) binding test is a flow cytometric test

Question 32

What is the role of Glucose-6-phosphate dehydrogenase?

Answer 32

→Role of the HMP shunt

Question 33

What is the role of the HMP shunt?

Answer 33

→Generates NADPH & reduced glutathione →Protects the cell from oxidative stress

Question 34

What are the effects of HMP shunt deficiency?

Answer 34

→Oxidation of Hb by oxidant radicals →Oxidised membrane proteins reduced RBC deformability

Question 35

What does oxidation of Hb lead to?

Answer 35

→resulting denatured Hb aggregates & forms Heinz bodies – bind to membrane.

Question 36

What is the role of NADPH in the HMP shunt?

Answer 36

→converts oxidised glutathione to a reduced form- protects against oxidative stress that leads to haemolysis

Question 37

What are the morphological findings of oxidative haemolysis?

Answer 37

→bite cells, →blister cells & Ghost cells; →Heinz bodies

Question 38

What are bite cells?

Answer 38

→abnormally shaped mature red blood cell with one or more semicircular portions removed from the cell margin

Question 39

What are Heinz bodies?

Answer 39

→lumps of damaged hemoglobin attached to your red blood cells

Question 40

What should people with OH avoid?

Answer 40

→oxidative drugs like anti-malaria drugs → they have protection against malaria

Question 41

What is the genotype of OH?

Answer 41

→X-linked

Question 42

What is the genotype of PKD?

Answer 42

→Autosomal recessive

Question 43

What pathway is PK involved in?

Answer 43

→Glycolytic Pathway | →generate ATP

Question 44

What is thalassaemia?

Answer 44

→Defect in the rate of synthesis alpha- or beta-globin chain (structurally normal →Excess unpaired globin chains are unstable

Question 45

What are the clinical divisions of thalassaemia?

Answer 45

→Hydrop foetalis →β-Thalassaemia major →Thalassaemia intermedia →Thalassaemia minor

Question 46

What are the clinical features of beta thalassemia major?

Answer 46

→Severe anaemia →Progressive hepatosplenomegaly →Bone marrow expansion – facial bone abnormalities →Transfusion dependent →Mild jaundice →Iron overload →Intermittent infections, pallor

Question 47

What are the morphological features of beta thalassaemia?

Answer 47

→Microcytic hypochromic with decreased MCV, MCH, MCHC →Anisopoikilocytosis; target cells, nucleated RBC, tear drop cells →Reticulocytes >2%

Question 48

Why is the bone marrow expansion in beta thalassaemia?

Answer 48

→extensive erythroid hyperplasia

Question 49

What are the features of beta thalassaemia minor?

Answer 49

→Asymptomatic →Often confused with Fe deficiency →α-thal trait often by exclusion →HbA2 increased in b-thal trait – (diagnostic)

Question 50

What are the features of Hb Barts hydrops syndrome of alpha thalassaemia?

Answer 50

→deletion of all 4 globin genes | →incompatible with life

Question 51

What are the features of HbH disease of alpha thalassemia?

Answer 51

→Deletion of 3/4 α-globin genes →moderate chronic HA Splenomegaly, hepatomegaly →hypochromic microcytic, poikilocytosis, polychromasia, target cells

Question 52

What is the mutation in HbS?

Answer 52

→glutamic acid at position 6 → valine (HbS)

Question 53

What are the clinically significant sickling syndromes?

Answer 53

→HbSS →HbSC →HbS- β thalassaemia

Question 54

What are the diagnostic tests for SCA?

Answer 54

→Solubility test | →HLPC

Question 55

What is thalassaemia intermedia?

Answer 55

→transfusion independent →diverse clinical phenotype →Increased bilirubin level