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Haem AM > Congenital anaemia > Flashcards

Congenital anaemia Flashcards

1
Q

What does hereditary spherocytosis cause?

A

Spherical red blood cells which are haemolysed faster

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2
Q

What haemolyses spherocytes?

A

Retciuloendothelial system

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3
Q

What is the presentation of hereditary spherocytosis?

A

Anaemia
Jaundice
Splenomegaly
Pigment gallstones

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4
Q

What is the management of hereditary spherocytosis?

A

Folic acid
Transfusion
Splenectomy

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5
Q

What causes a problem with the pentose phosphate shunt?

A

G6PD deficiency

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6
Q

What does G6PD deficiency lead to?

A

Oxidative damage of RBCs and increased haemolysis

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7
Q

What is the benefit of G6PD deficiency?

A

Confers protection against severe malaria, and therefore seen more where malaria if prevalent

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8
Q

What is the presentation of G6PD deficiency?

A

Jaundice precipitated by infection, certain food or drugs

Neonatal jaundice, splenomegaly, pigment gallstones

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9
Q

What investigations are done for G6PD deficiency?

A

Blood film- Heinz bodies

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10
Q

What is the management of G6PD deficiency?

A

Avoid precipitants

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11
Q

What is the pathology in thalassaemia?

A

Reduced or absent globin chain production

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12
Q

What are the types of thalassaemia?

A

Alpha thalassaemia

Beta thalassaemia- major, minor and non transfusion dependent

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13
Q

What is beta thalassaemia major?

A

No beta chains, reply completely on foetal haemoglobin and HbA2

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14
Q

What is the presentation of beta thalassaemia major?

A

Severe anaemia from 3-6 months
Expansion of ineffective bone marrow
Splenomegaly
Gorwth retardation

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15
Q

What is the management of beta thalassaemia major?

A

Transfusions every 4-6 weeks

Iron chelation therapy to prevent iron overload

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16
Q

What is the curative treatment of beta thalassaemia major?

A

Bone marrow transplant

17
Q

What is non transfusion dependent thalassaemia?

A

Mix of mutations

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

18
Q

What is beta thalassaemia minor?

A

Carrier state

19
Q

What is the genetics of sickle cell anaemia?

A

2 alpha chains

2 beta sickle chains

20
Q

What are the consequences of sickle cell disease?

A

Sickle cells are fragile and haemolyse

They block small blood vessels and cause vasoocclusion

21
Q

What is the presentation of sickle cell?

A

Chronic haemolytic anaemia- anaemia, jaundice, splenomegaly
Occlusion- stroke, vaso-occlusive crises, chest crises
Infection risk

22
Q

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

A

Fast analgesia
Hydration
Oxygen

23
Q

What is the management of chest crises in sickle cell?

A 
Resp support
Antibiotics
IV fluids
Analgesia
Transfusion
24
Q

What are the management principles of sickle cell?

A 
Lifelong infection prophylaxis
Blood transfusion
Disease modifying drugs
Bone marrow transplant
Manage acute situations

Haem AM (9 decks)

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