Haem 1s: Haemolytic Anaemia

Question 1

classifications of haemolytic anaemia

Answer 1

• intra/extra- vascular
• hereditary /acquired

Question 2

egs of extravasular haemolytic anaemia

Answer 2

• autoimmune
• alloimmune
• Hereditary spherocytosis [AD inheritance]

Question 3

egs of intravasular haemolytic anaemia

Answer 3

Question 4

Consequences of haemolysis?

Answer 4

• Anaemia (may not be present if output from bone marrow is high enough)
• Erythroid hyperplasia (increased RBC production and reticulocyte circulation)
• Increased folate demand

Susceptibility to:

• Parvovirus B19 (DNA virus)
• Gallstones (inc. risks in Gilbert’s syndrome - UGT 1A1 TA7/TA7 genotype)
• Iron overload → Hepatic siderosis
• Osteoporosis

Question 5

Clinical + lab features of haemolytic anaemia

Answer 5

Clinically

• pallor,
• jaundice,
• splenomegaly,
• pigmenturia,
• FHx

Laboratory:

• low Hb → low haptoglobins (normally binds to Hb)
• increased RBC breakdown →
  
  • high BR
  • high LDH
  • haemoglobinuria,
  • haemosiderinuria (iron from Hb released)
• increased RBC breakdown → high immature RBCs:
  
  • reticulocytosis, (immature RBCs)
  • polychromasia (high no. of immature RBCs in blood)

Question 6

Hereditary haemolytic anaemias from disorders of?

Answer 6

• RBC Membrane
  
  • Hereditary spherocytosis (AD)
  • Hereditary elliptocytosis (AD)
• RBC metabolism
  
  • G6PD Deficiency (X-linked)
  • Pyruvate kinase deficiency
  • Pyrimidine 5’-nucleotidase deficiency
• Haemoglobin
  
  • Thalassaemia,
  • Sickle cell disease

Question 7

Describe the RBC membrane abnormality seen in Hereditary spherocytosis

Answer 7

• vertical interaction;
• band 3,
• protein 4.2,
• ankyrin + b Spectrin

Question 8

Describe the RBC membrane abnormality seen in Hereditary elliptocytosis

Answer 8

• horizontal interaction;
• (no band),
• protein 4.1
• a-spectrin + b-Spectrin

Question 9

Summarise Hereditary spherocytosis

Answer 9

• AD inheritance

Question 10

Summarise Hereditary spherocytosis

Answer 10

• AD inheritance

Question 11

Diagnosis?

Answer 11

Hereditary spherocytosis (lack of central pallor)

Question 12

Diagnosis?

Answer 12

Hereditary elliptocytosis

Question 13

Summarise G6PD deficiency

Answer 13

• X-linked (clinical effects in males or homozygous females)

Question 14

What is seen on microscopy in G6PD deficiency?

Answer 14

• Bite cells,
• hemi-ghosts,
• nucleated RBCs,
• Heinz bodies (damaged Hb attached to RBC membrane)
  
  • (methyl violet stain)

Question 15

Diagnosis?

Answer 15

G6PD deficiency

Question 16

Diagnosis?

Answer 16

Heinz bodies (denatured Hb attached to RBC membrane)

seen in G6PD deficiency (methyl violet stain)

Question 17

What is seen in microscopy in Pyruvate kinase deficiency?

Answer 17

• echinocytes → ‘hedgehog-like’ RBCs
• spherocytes

Question 18

Diagnosis?

Answer 18

Echinocytes = ‘hedgehog-like’ RBCs

Seen in Pyruvate kinase deficiency

Question 19

What is seen in microscopy in Pyrimidine 5’-nucleotidase deficiency?

Answer 19

basophilic inclusions

Question 20

1st line Ix in haemolytic anaemia?

Answer 20

find cause…

Question 21

Mx of haemolytic anaemia?

Answer 21

Question 22

Difference between direct & indirect Coomb’s test?

Answer 22

• DAT: direct antiglobulin test (Coomb’s test)
  
  • detects Abs/complement proteins attached to RBC surface
• indirect antiglobulin test (DAT: direct antiglobulin test (
  
  • detects Abs to foreign RBCs in serum

Question 23

Name some Coomb’s positive acquired haemolytic anaemias

Answer 23

• Warm AI Haemolytic anaemia (WAIHA)
• Cold agglutinin disease
• Paroxysmal cold haemoglobinuria