Congenital anaemia Flashcards Preview

Haematology and Immunology AM > Congenital anaemia > Flashcards

Flashcards in Congenital anaemia Deck (28)
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1
Q

What can cause congenital anaemia in the red cell membrane?

A

Defects in membrane proteins causing increased cell destruction

2
Q

What condition causes defects in the red cell membrane?

A

Hereditary spherocytosis

3
Q

What does hereditary spherocytosis cause?

A

Spherical red blood cells

Defects in 5 membrane proteins

4
Q

What is the presentation of hereditary spherocytosis?

A

Anamis
Jaundice
Splenomegaly
Pigment gallstones

5
Q

What is the treatment of hereditary spherocytosis?

A

Folic acid
Transfusion
Splenectomy

6
Q

What metabolic pathways are often the site of pathology?

A

Glycolysis

Pentose phosphate shunt

7
Q

What can cause anaemia via defects in glycolysis?

A

Pyruvate kinase deficiency

8
Q

What happens in pyruvate kinase deficiency?

A

Cells rigid and liable to haemolysis

9
Q

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

A

Glucose phosphate dehydrogenase (G6PD) deficiency

10
Q

What does G6PD deficiency cause?

A

Oxidative damage of cells

11
Q

What is the genetics of G6PD deficiency?

A

X linked

12
Q

What is the presentation of G6PD deficiency?

A
Variable
Neonatal jaundice
Splenoegaly
Pigment gallstoens
Drugs precipitating severe haemolysis
13
Q

What is the treatment of G6PD deficiency?

A

Avoid precipitants

14
Q

What defects in haemoglobin can cause anaemia?

A

Reduced or absent globin chain production

Mutations leading to structurally abnormal globin chain

15
Q

What condition causes reduced or absent globin chain production?

A

Thalassaemia

16
Q

What is alpha thalassaemia?

A

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

17
Q

What are the types of beta thalassaemia?

A

B thalassaemia major
Non transfusion dependent thalassaemia
Thalassaemia minor

18
Q

What is beta thalassaemia major?

A

No beta chains

Rely on foetal haemoglobin and HbA2

19
Q

What is the presentation of beta thalassaemia major?

A

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

20
Q

What is the treatment of beta thalassaemia major?

A

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

21
Q

What is non transfusion dependent thalassaemia?

A

Mix of mutations

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

22
Q

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

A

Sickle cell anaemia

23
Q

What is the genetics of skill cell?

A

2 alpha chains

2 beta sickle chains

24
Q

What are the consequences of sickle cell

A

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

25
Q

What is the presentation of sickle cell?

A
VAso-occlusive crises
Chest crises
Stroke
Increased infection risk
Chronic haemolytic anaemia
26
Q

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

A

Fast analgesia
Hydration
Oxygen

27
Q

What is the management of chest crises in sickle cell?

A
Resp support
Antibiotics
IV fluids
Analgesia
Transfusion
28
Q

What is the management of sickle cell?

A

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