Congenital anaemia

Question 1

What can cause congenital anaemia in the red cell membrane?

Answer 1

Defects in membrane proteins causing increased cell destruction

Question 2

What condition causes defects in the red cell membrane?

Answer 2

Hereditary spherocytosis

Question 3

What does hereditary spherocytosis cause?

Answer 3

Spherical red blood cells

Defects in 5 membrane proteins

Question 4

What is the presentation of hereditary spherocytosis?

Answer 4

Anamis
Jaundice
Splenomegaly
Pigment gallstones

Question 5

What is the treatment of hereditary spherocytosis?

Answer 5

Folic acid
Transfusion
Splenectomy

Question 6

What metabolic pathways are often the site of pathology?

Answer 6

Glycolysis

Pentose phosphate shunt

Question 7

What can cause anaemia via defects in glycolysis?

Answer 7

Pyruvate kinase deficiency

Question 8

What happens in pyruvate kinase deficiency?

Answer 8

Cells rigid and liable to haemolysis

Question 9

What can cause anaemia via defect in the pentose phosphate shunt?

Answer 9

Glucose phosphate dehydrogenase (G6PD) deficiency

Question 10

What does G6PD deficiency cause?

Answer 10

Oxidative damage of cells

Question 11

What is the genetics of G6PD deficiency?

Answer 11

X linked

Question 12

What is the presentation of G6PD deficiency?

Answer 12

Variable
Neonatal jaundice
Splenoegaly
Pigment gallstoens
Drugs precipitating severe haemolysis

Question 13

What is the treatment of G6PD deficiency?

Answer 13

Avoid precipitants

Question 14

What defects in haemoglobin can cause anaemia?

Answer 14

Reduced or absent globin chain production

Mutations leading to structurally abnormal globin chain

Question 15

What condition causes reduced or absent globin chain production?

Answer 15

Thalassaemia

Question 16

What is alpha thalassaemia?

Answer 16

Defect in alpha chains
Variable
0 alpha chains= incompatible with life

Question 17

What are the types of beta thalassaemia?

Answer 17

B thalassaemia major
Non transfusion dependent thalassaemia
Thalassaemia minor

Question 18

What is beta thalassaemia major?

Answer 18

No beta chains

Rely on foetal haemoglobin and HbA2

Question 19

What is the presentation of beta thalassaemia major?

Answer 19

Severe anaemia- usually presenting at 3-6 months
Expansion of ineffective bone marrow
Splenomegaly
Growth retardation

Question 20

What is the treatment of beta thalassaemia major?

Answer 20

Transfusion dependent- 4-6 weeks
Iron chelation therapy- prevents iron overloading
Bone marrow transplant- curative

Question 21

What is non transfusion dependent thalassaemia?

Answer 21

Mix of mutations

May require transfusions in times of stress e.g. pregnancy

Question 22

What condition can cause a mutation leading to structural abnormal globin chain?

Answer 22

Sickle cell anaemia

Question 23

What is the genetics of skill cell?

Answer 23

2 alpha chains

2 beta sickle chains

Question 24

What are the consequences of sickle cell

Answer 24

HAemolysis
Endothelial damage, inflammation, coagulation activation
Aggregation of abnormal cells around area of endothelial damage, causing vasoocclusion

Question 25

What is the presentation of sickle cell?

Answer 25

VAso-occlusive crises
Chest crises
Stroke
Increased infection risk
Chronic haemolytic anaemia

Question 26

What is the management of vase-occlusive crises in sickle cell?

Answer 26

Fast analgesia
Hydration
Oxygen

Question 27

What is the management of chest crises in sickle cell?

Answer 27

Resp support
Antibiotics
IV fluids
Analgesia
Transfusion

Question 28

What is the management of sickle cell?

Answer 28

Lifelong prophylaxis- vaccinations, folic acid, antibiotics
Acute- hydration, oxygen, prompt treatment of infection
Analgesia
Blood transfusion
Disease modifying drugs
Bone marrow transplant