Lecture 3 Red Cells 1

Question 1

Name 4 causes of anaemia

Answer 1

Blood loss
Increased cell destruction
Lack of production
Defective production

Question 2

Name the substances required for red cell production

Answer 2

Metals: iron, magnesium, cooper and cobalt
Vitamins: B12, folate, thiamine, Vit B6, C and E
Amino acids
Hormones: Erythropoietin

Question 3

Where does red cell breakdown occur

Answer 3

In reticuloendothelial system Macrophages in spleen, liver, lymph nodes and lungs

Question 4

What is the normal red cell life span

Answer 4

120 days

Question 5

What is bilirubin bound to in plasma

Answer 5

Albumin

Question 6

What is Hereditary Spherocytosis

Answer 6

Defects in 5 different strutural proteins

1. Ankyrin
2. Alpha spectrin
3. Beta spectrin
4. Band 3
5. Protein 4.2

Question 7

What are the shape of RBC is hereditary Spherocytosis

Answer 7

Spherical

Question 8

What are the clinical features of an individual with Hereditary Spherocytosis

Answer 8

Anaemia
Jaundice (neonatal)
Splenomegaly
Pigment gallstones

Question 9

How is Hereditary Spherocytosis treated

Answer 9

Folic acid
Transfusion
Splenectomy (if anaemia severe)

Question 10

What type of anaemia is hereditary spherocytosis

Answer 10

Normocytic Haemolytic anaemia

Membrane defect

Question 11

What is the Pentose phosphate shunt

Answer 11

Protects red blood cells from oxidative damage

Question 12

What does G6DP produce and what is it vital for

Answer 12

NADPH

Vital for reduction of glutathione

Question 13

What type of inheritance is G6DP deficiency

Answer 13

X linked recessive
Affects Males
Female Carriers

Question 14

What is the appearance of the red blood cells in G6DP deficiency

Answer 14

Blister/bite ccells

Question 15

What is the clinical presentation of G6DP deficiency

Answer 15

Anaemia
Neonatal jaundice
Splenomegaly
Pigment gallstones

Question 16

Name triggers of haemolysis in G6DP deficiency

Answer 16

Infection
Broad beans
Drugs (antimalarials, aspirin, Vit K analogues, Sulphonamide)s

Question 17

What happens during pyruvate kinase dificiency

Answer 17

Reduced ATP
Increased 2,30DPG
Cells rigid

Question 18

What type of anaemia is caused by G6DP deficiency and Pyruvate kinase deficiency

Answer 18

Normocytic Anaemia

Enzyme defect

Question 19

What is Thalassaemia

Answer 19

Reduced or absent globin chain production

Question 20

What type of anaemia does Thalassaemia cause

Answer 20

Microcytic

Question 21

What type of mutation causes sickle cell

Answer 21

Point mutation

Question 22

What is the clinical presentation of Sickle Cell

Answer 22

Painful vaso-occlusive crisis
Chest crisis
Stroke
Splenimegaly
Splenic atrophy

Question 23

Name medication used for life-long prophylaxis in sickle cell

Answer 23

Vaccination
Penicillin
Folic acid

Question 24

What type of anaemia does sickle cell cause

Answer 24

Normocytic

Abnormal haemoglobin

Question 25

What is Homozygous alpha zero thalassaemia

Answer 25

No alpha chains

Hydrops fetalis- incompatible with life

Question 26

What is Beta Thalassaemia major

Answer 26

No beta chains

Transfusion dependent anaemia

Question 27

What stage in life is Beta thalassaemia present

Answer 27

First 3-6 months of life

Question 28

What is Thalassaemia minor

Answer 28

Trait or carrier state

Question 29

How do the cells appear in Thalassaemia minor

Answer 29

Hypochromic and microcytic

Question 30

Defects in mitochondrial steps of haem synthesis result in___

Answer 30

Sideroblastic anaemia