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Yr5 Haematology > Genetic Conditions > Flashcards

Genetic Conditions Flashcards

1
Q

How common is von Willebrand disease?

A

Most common inherited bleeding disorder

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2
Q

How does von Willebrand disease present?

A

Bruising
Epistaxis
Menorrhagia
Bleeding gums

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3
Q

How is von Willebrand disease investigated?

A

Bloods: ↑APTT ↑Bleeding time ↓Factor VIIIC

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4
Q

How is von Willebrand disease managed?

A

Mild bleed: Tranexamic acid
↑levels of vWF: Desmopressin
Factor VIII replacement

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5
Q

What is thrombophilia?

A

↑Clotting

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6
Q

What is the most common typeof thrombophilia?

A

Factor V Leiden- Most common cause

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7
Q

How are thrombophilias investigated?

A

Bloods: FBC, Clotting
Blood Film
Assays: Anti-thrombin, Protein C + S

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8
Q

How are thrombophilias managed?

A

LMWH

Target INR: 2-3

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9
Q

What is haemophilia?

A

Deficiency of clotting factors

leading to ↑Risk of bleeding

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10
Q

What are the types of haemophilia?

A

Type A: Factor VIII (Severe + common)

Type B: factor IX (Christmas disease- rare + mild)

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11
Q

How is haemophilia, Thalassaemia, Sickle Cell, von Willebrand disease inherited?

A 
Haemophilia = X-Linked recessive
(Males AFFECTED, Females CARRIERS)
Thalassaemia = Autosomal Recessive
Sickle Cell = Autosomal Recessive
vWD = Autosomal Dominant
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12
Q

How does haemophilia type A present?

A 
Massive bleed into joint/muscle 
Haemarthrosis
Haematoma
Prolonged bleeding post-op/trauma
NSAID related bleeds
Neonatal bleeds
Haematuria
IC haemorrhage
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13
Q

Why is haemarthrosis an issue in haemophilia?

A

Degenerative joint disease if persistent/recurrent

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14
Q

How is haemophilia investigated?

A
  • Bloods: ↑APTT (prolonged)
  • NORMAL: PT, Thrombin, Prothrombin time
  • Clotting factors: Factor 8/9
  • Assays
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15
Q

How is haemophilia managed?

A

Clotting factor replacement: IV infusion of recombinant F8/ F9
Prophylaxis: 2/week doses in children to prevent bleeds

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16
Q

How is haemophilia management adjusted after a major & minor bleed?

A 
Minor = Correct to 30% normal F8 + Desmopressin 
Major = Correct to 100% normal F8
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17
Q

How does haemophilia type B present?

A

Minor bleed + bruising

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18
Q

What is a complication of replacing clotting factors?

A 
Production of antibodies which inhibit factors
Use instead:
-Porcine F8
-Activated F9
-Recombinant F8a
-Immune tolerance regimens.
19
Q

What should be used with caution/contraindicated in haemophiliacs?

A

IM injections

NSAIDs

20
Q

What is Thalassaemia?

A

Point mutation of either β globin chains on Chr11
OR
Gene deletion of α globin chains on Chr16
Of Hb characterised by type & No. of chains affected

21
Q

In terms of α gene deletion, what are the different severities of Thalassaemia?

A
  • -/– = HYDROPS → incompatible w/ life
  • -/-α = HbH → mod anaemia +/- haemolysis
  • -/αα = Asymptomatic carrier
  • α/αα = No clinical change
22
Q

In terms of β point mutations what are the different severities of Thalassaemia?

A

Can be ↓No of chains (β+)
OR
Absence of chain (β°)
β°/β° = Major, 80% mortality at 5yo
β+/β+ = Intermedia → mod anaemia +/- splenomegaly
β/β+ = Minor/Trait → Carrier, asymptomatic or mild anaemia

23
Q

How does Thalassaemia present?

A 
Haemolytic Anaemia
Fatigue
Hepato-splenomegaly
Osteopenia
Skull bossing (β- Thalassaemia)
Prominent facial bones
Dental deformities
24
Q

How does HbH disease present clinically?

A 
3 α chains deleted
Symptomatic
↓ Hb
↓↓ MCV
↓ ↓MCH
Splenomegaly
Bone changes
25
Q

How does β-thalassaemia major present?

A 
Symptomatic
↑HbF >90%
↓ Hb (severe haemolytic anaemia)
↓↓ MCV
↓ ↓MCH
Splenomegaly, hepatomegaly
Bone changes
26
Q

How are most β-thalassaemia major’s in babies picked up?

A

Heel prick screening

27
Q

How is thalassaemia investigated?

A

Hb Electrophoresis = DIAGNOSTIC in β-thalassaemia: HbA2 >3.5% = DIAGNOSTIC
Bloods: ↑Bili, ↑Reticulocytes, ↑↑HbF (β Major), ↑Ferritin
Blood Film: Microcytic, hypo chromic cells +/- target cells
Xray: Hair on end skull

28
Q

How is thalassaemia managed?

A

Blood Transfusions: 2-4w, maintain Hb >95
Fe Chelation/ Ascorbic acid
Splenectomy
BM transplant

29
Q

What are the complications of a splenectomy?

A

Life-threatening infections
VTE
Pulmonary hypertension

GIVE LIFELONG:
Abx: Phenoxymethylpenicillin
Vaccines: Pneumococcal, Flu

30
Q

What is the pathophysiology of Sickle Cell anaemia?

A

Disorder producing abnormal β of Hb
HbS polymerises when deoxygenated
Forms Sickle cells
Can cause haemolysis & lodges in microvasculature

31
Q

What is the cause of a sickle cell crisis?

A

Clot in microvasculature

32
Q

When is Sickle Cell trait considered an evolutionary advantage?

A

HbAS = Trait

Protects against plasmodium Falciparum

33
Q

How does sickle cell usually present?

A

Kids 3-6m
Anaemia & pallor
Jaundice & Gallstones (haemolysis)
Lethargy & Growth restriction

34
Q

What are the signs of a vast-occlusive crisis in sickle cell?

A

TRIGGER: Pain, cold, infection, dehydration, exertion

  • SEVERE PAIN in location:
  • Dactylitis → Hands&feet
  • Mesenteric ischaemia → Gut
  • Stroke/seizure → Brain
  • Avascular necrosis → Bone
  • Loin pain/haematuria → kidney
  • Priapism → Penis
35
Q

What are the signs of an aplastic crisis in Sickle cell?

A

Parvovirus B19 infection
INCREASING FATIGUE due to BM failure (cessation of RBC production)
Self-limiting & resolves in 2w

36
Q

What are the signs of a splenic sequestration crisis?

A 
Kids
SPLENOMEGALY
LUQ Pain
Organomegaly
Shock
37
Q

What are the signs of acute chest syndrome in sickle cell?

A 
Pulmonary infiltrates in lung segments (fat emboli or infection)
Pain
SOB
Fever
Wheeze
Cough
38
Q

How is sickle cell anaemia investigated?

A

Hb ELECTROPHORESIS= DIAGNOSTIC
Bloods: FBC (60-80), ↑reticulocytes (10-20%), U&E, LFT, CRP, Clotting, G&S/XM
Blood Film: Target & Sickle cells
Imaging: CXR (if chest Sx)

ACUTE:

  • LOOK FOR CAUSE (bloods, CXR, MSU)
  • Fever: Cultures
39
Q

How is acute sickle cell managed?

A 
IV Morphine
IV Fluids & warm
Blod transfusion: ↓Hb
Fever = Broad & Blind Abx (Amoxicillin)
Wheeze = Bronchodilators
40
Q

How is chronic sickle cell managed?

A 
HAEMOTOLOGIST
1) Hydroxycarbamide: 20mg/kg/d
2) Folic acid/Zinc supplements
3) ?BM transplant (can be curative)
↑↑risk of sepsis: Ceftriaxone
41
Q

Do patients with sickle cell need follow-ups?

A

YES
Regular exam - Spleen
USS - Transcranial
Screen for complications

42
Q

What are the Sx of antiphospholipid syndrome?

A 
CLOT:
C: Coagulation defect
L: Livedo reticularis
O: Obstetric (recurrent miscarriage)
T: Thrombocytopaenia
43
Q

What medications should be given long term to someone with Sickle Cell?

A 
Penicillin V (repeat damage to spleen = scarring & fibrosis- doesn't work very well)
Folic Acid (rapid turnover of RBC)

Yr5 Haematology (6 decks)

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