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Systems- Haematology > SCD & Thalassemia > Flashcards

SCD & Thalassemia Flashcards

1
Q

SCD and thalassaemia are both types of what?

A

Congenital anaemia

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2
Q

What is the mode of inheritance of both SCD and thalassaemia?

A

Autosomal recessive

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3
Q

Where does the mutation occur in SCD, and what does it result in?

A

Mutation occurs on HB’s beta chain

Results in RBCs being of a sickle shape

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4
Q

What Hb chain does SCD mutate?

A

Beta chain

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5
Q

What are the 2 main features of SCD?

A

Haemolysis

Vado-occlusions

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6
Q

I’m young patients with SCD, what can occur which is a clinical emergency?

A

Splenic infarction

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7
Q

If osteomyelitis was to occur in patients with SCD, what is the likely cause?

A

Salmonella

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8
Q

What are the clinical features of SCD?

A

Bone pain
Leg ulceration
Hyposplenism
Pigmented gallstones

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9
Q

Chest crisis can occur in SCD. What are the triad of symptoms?

A

Worsening hypoxia
Chest pain
Fever

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10
Q

If an SCD patient presents with chest pain, worsening hypoxia and fever, what is this presentation called?

A

Chest crisis

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11
Q

What are the risk factors of SCD in terms of:
A. Ethnicity

B. Geography/climate

A

A. Afro-Caribbean

B. Areas where malaria is common

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12
Q

What ethnicity is most at risk of SCD?

A

Afro-Caribbean

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13
Q

What parasitic infection are sufferers of SCD protected from?

(Same as in G6PD deficiency)

A

Malaria

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14
Q

What is the common cause of the severe bone pain in SCD?

A

Femoral head necrosis

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15
Q

If an SCD patient presents with chest crisis or just severe pain, what would you give them?

A

Analgesia (within 30mins)
Oxygen & rehydration
Antibiotics (consider)

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16
Q

How is severe SCD treated?

A

Blood transfusions

Splenectomy

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17
Q

What is given for the long term prophylaxis of SCD?

A

Folic avid
Penicillin
Hydroxycarbamide
Vaccinations

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18
Q

What are some complications that can occur in SCD?

A

ATE or VTE (due to vasoccluions)
Chest crisis
Splenic infarction

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19
Q

Why may a splenectomy be done prophylacticaly for SCD sufferers?

A

To prevent splenic infarction occurring

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20
Q

How does thalassaemia affect the HB chains?

A

They are reduced or absent

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21
Q

What Hb chains does thalassaemia affect?

A

Both alpha and beta chains

If alpha chain -> alpha thalassaemia
If beta chain -> beta thalassaemia

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22
Q

What are the 2 types of thalassemia?

A

Alpha and beta

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23
Q

What does thalassemia look like on a blood film?

A

Microcytic

Hypochromic

24
Q

In severe thalassaemia, severe clinical features can occur, what are they?

A

Bone deformities
Growth retardation
Splenomegaly

25
Q

In severe thalassemia, what sorta appearance occurs on bone marrow?

A

‘Hair on end’

26
Q

What can occur in children as young as 10 with thalassaemia if it is not treated?

A

Death

27
Q

How is thalassaemia treated?

A

Regular blood transfusions

28
Q

How often should blood transfusions occur in thalassaemia sufferers?

A

4-6 per week

29
Q

What must thalassaemia patients get before getting a blood transfusion and why?

A

Iron chelation therapy

As this therapy increases the excretion of Fe, otherwise the transfusion will cause an De overload

30
Q

What is the main cause of sickle cell crisis?

A

Splenic infarction

31
Q

What is the collective term for haemophilia and thalassemia?

A

Haemoglobinopathies

32
Q

How is sickle crisis treated?

A 
IV fluids
Oxygen
Hydration
Analgesia
Blood transfusion
33
Q 
What are signs of SCD on the...
A. Skin
B. Kidney
C. Biliary tree
D. Bone
A

A. Chronic leg ulcer
B. Papillary necrosis
C. Pigmented gallstones
D. AVN of femoral head

34
Q

How does SCD usually present as?

A

Worsening pain that doesn’t respond to analgesia

35
Q

What are the main 2 triggers for an SCD crisis?

A

Hypoxia

Dehydration

36
Q

Why should you always check SCD patient’s vision?

A

Retinopathy can occur

37
Q

Why should you always check SCD patient’s LFTs?

A

Liver failure can occur

38
Q

Why should you always check SCD patient’s X-rays?

A

AVN of femoral head can occur

39
Q

Why should you always check SCD patient’s RFTs?

A

Papillary necrosis can occur

40
Q

Why should you always check SCD patient’s Well’s score, D-dimer and V/Q scan?

A

PE can occur

41
Q

Why should you always check SCD patient’s cerebral doppler USS?

A

Stroke can occur

42
Q

What is it called when a lot of sickle cells clump together?

A

Sickling

43
Q

Why should you always check SCD patient’s blood results?

A

Hyposplenism occurs

44
Q

Why do SCD patient’s need lifelong antibiotics (penicillin)?

A

As hyposplenism occurs, so they need protection from infection ehhh

45
Q

What vaccinations are SCD patients given?

A

Pneumococcal
Haemophilis inlfuenzae
Meningiococcal

46
Q

What are the long-term treatments for SCD?

A

Penicillin
Folic acid supplements
Vaccinations
Hydroxycarbamide

47
Q

Why must SCD sufferers get genetic counselling if they wanna have a baby?

A

As SCD can merit a TOP (termination of preggers)

48
Q

What is the likely cause of leg pain in SCD?

A

Femoral head AVN

49
Q

Africans are obvs most commonly affected by SCD (same as thalassemia), but why might they not want to get tested or say they have it?

A

As there’s a stigma attached

50
Q

If an adult presents with microcytic and hypochromic anaemia, but is not Fe deificent or is in anyway symptomatic and has never had any childhood issues, what is the likley diagnosis?

A

Thalassemia Trait

carrier of the gene but asymptomatic

51
Q

Where in the world is thalassemia most common?

these are the areas that you must be extra vigiliant about

A

West Africa
SE Asia
The Med (Greece)

52
Q

What does thalassmeia mean in latin or greek?

A

Sea blood

arrrrrrr me harty

53
Q

What do you look out for in SCD on a blood film?

A

Howel-Jowell bodies

54
Q

If Howel-Jowell bodies occur on a blood film, what is it a sign of?

A

Hyposplenism

55
Q

Hyposplenism can result in Howell-Jowel bodies on a blood film, what condition cause it?

A

SCD
Splenectomy
Coeliacs
Amyloidosis

Systems- Haematology (26 decks)

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