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Haem/Onc MRCP > Haemoglobinopathies > Flashcards

Haemoglobinopathies Flashcards

1
Q

What are the genetics of sickle cell?

A

Autosomal recessive

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2
Q

When do symptoms from sickle cell appear?

A

4-6 months
HbSS takes over from HbF

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3
Q

What is the long term management of sickle cell?

A

Hydroxycarbamide - raises HbF levels
Exchange transfusion
Supportive

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4
Q

What are the types of sickle cell crisis?

A

Vaso-occlusive (painful)
Acute chest crisis
Aplastic
Sequestration

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5
Q

What precipitates vase-occlusive crises?

A

Infection
Dehydration
Altitude
Hypoxis

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6
Q

How are vast-occlusive crises diagnosed in sickle cell?

A

Clinical diagnosis

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7
Q

What is the pathophysiology of a chest crisis in sickle cell?

A

Vaso-occlusion in pulmonary microvasculature –> infarction in lung

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8
Q

What is seen on CXR in chest crisis?

A

Pulmonary infiltrates

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9
Q

What is the management of chest crisis?

A

Supportive - pain relief, antibiotics, oxygen
Transfusion - improves oxygenation

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10
Q

What is an aplastic crisis in sickle cell?

A

Sudden fall in haemoglobin due to parovirus suppressing bone marrow

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11
Q

What is seen on bloods in aplastic crisis?

A

Low Hb
Reduced reticulocyte count

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12
Q

What is a sequestration crisis in sickle cell?

A

Sickling within organs such as spleen or lungs causes pooling of blood with worsening of anaemia

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13
Q

What is seen on bloods in sequestration crisis?

A

Raised retics

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14
Q

What is alpha thalassaemia?

A

Deficiency of alpha chains in Hb

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15
Q

What are the genetics of alpha thalassaemia?

A

Affects 2 alpha globulin genes on chromosome 16

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16
Q

What determines the severity of alpha thalassaemia?

A

Number of alpha globulin alleles affected

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17
Q

What is the picture be on bloods if thalassaemia affected 1-2 alleles?

A

Microcytic and hypochromic but Hb normal

18
Q

What s the picture on bloods if 3 alpha globulin alleles affected?

A

Hypochromic microcytic anaemia with splenomegaly

19
Q

What is beta thalassaemia trait?

A

Some but not all beta globulin alleles affected

20
Q

What is the characteristic picture on bloods of beta thalassaemia trait?

A

Mild hypochromic microcytic anaemia
Microsytosis normally disproportionate to anaemia

21
Q

What is beta thalassaemia major?

A

Absence of beta globulin chains

22
Q

What are the genetics of beta thalassaemia?

A

Autosomal recessive
Chromosome 11

23
Q

What is the presentation of meta thalassaemia major?

A

Failure to thrive
Hepatosplenomegaly
Microcytic anaemia
Normally presents in first year of life
Raised HbA2 and HbF

24
Q

What is the management of beta thalassaemia major?

A

Transfusion with iron chelation therapy

25
Q

What is the pathophysiology of G6PD deficiency?

A

Decreased G6PD –> decreased NADPH –> reduced glutathione –> increased red cell sensitivity to oxidative stress

25
Q

What is G6PD deficiency?

A

Glucose 6 phosphate deficiency
Most common red blood cell enzyme defect

26
Q

What are the common features of G6PD deficiency?

A

Neonatal jaundice
Intravascular haemolysis
Gallstones

27
Q

What is seen on blood film with G6PD?

A

Heinz bodies
Bite and blister cells

28
Q

What is the inheritance of G6PD?

A

X linked recessiveWhat

29
Q

population is G6PD normally seen in?

A

African or Mediterranean

30
Q

What is the typical history of G6PD?

A

Neonatal jaundice
Gallstones
Drugs precipitate haemolysis

31
Q

What drugs are associated with haemolysis in G6PD?

A

Anti-malarials - primaquine
Cipro
Sulphonamides, sulphasalazine, sulphonylureas

32
Q

How is G6PD diagnosed?

A

G6PD enzyme assay - 3 months post acute episode to allow time to recover

33
Q

What are the genetics of hereditary spherocytosis?

A

Autosomal dominant

34
Q

What population is hereditary spherocytosis seen in?

A

Northern Europeans

35
Q

What is the common presentation of hereditary spherocytosis?

A

Normally more chronic picture
Failure to thrive
Jaundice, gallstones, splenomegaly

36
Q

What precipitated haemolytic crisis in hereditary spherocytosis?

A

Parvovirus infection

37
Q

How is hereditary spherocytosis diagnosed?

A

Family history, typical clinical features and lab features
- spherocytes, raised relics, raised MCHC

38
Q

What is used to diagnose hereditary spherocytosis if there is uncertainty?

A

EMA binding test

39
Q

What kind of haemolysis is seen in hereditary spherocytosis?

A

Extravascualr - so gets splenomegaly

40
Q

What kind of haemolysis is seen in G6PD?

A

Intravascular

Haem/Onc MRCP (18 decks)

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