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Yr5 Haematology > Genetic Conditions > Flashcards

Genetic Conditions Flashcards

(43 cards)

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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?

Study These Flashcards
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?

Study These Flashcards
A

IM injections

NSAIDs

20
Q

What is Thalassaemia?

Study These Flashcards
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?

Study These Flashcards
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?

Study These Flashcards
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?

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

How does HbH disease present clinically?

Study These Flashcards
A 
3 α chains deleted
Symptomatic
↓ Hb
↓↓ MCV
↓ ↓MCH
Splenomegaly
Bone changes
25
How does β-thalassaemia major present?
``` Symptomatic ↑HbF >90% ↓ Hb (severe haemolytic anaemia) ↓↓ MCV ↓ ↓MCH Splenomegaly, hepatomegaly Bone changes ```
26
How are most β-thalassaemia major's in babies picked up?
Heel prick screening
27
How is thalassaemia investigated?
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
How is thalassaemia managed?
Blood Transfusions: 2-4w, maintain Hb >95 Fe Chelation/ Ascorbic acid Splenectomy BM transplant
29
What are the complications of a splenectomy?
Life-threatening infections VTE Pulmonary hypertension GIVE LIFELONG: Abx: Phenoxymethylpenicillin Vaccines: Pneumococcal, Flu
30
What is the pathophysiology of Sickle Cell anaemia?
Disorder producing abnormal β of Hb HbS polymerises when deoxygenated Forms Sickle cells Can cause haemolysis & lodges in microvasculature
31
What is the cause of a sickle cell crisis?
Clot in microvasculature
32
When is Sickle Cell trait considered an evolutionary advantage?
HbAS = Trait | Protects against plasmodium Falciparum
33
How does sickle cell usually present?
Kids 3-6m Anaemia & pallor Jaundice & Gallstones (haemolysis) Lethargy & Growth restriction
34
What are the signs of a vast-occlusive crisis in sickle cell?
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
What are the signs of an aplastic crisis in Sickle cell?
Parvovirus B19 infection INCREASING FATIGUE due to BM failure (cessation of RBC production) Self-limiting & resolves in 2w
36
What are the signs of a splenic sequestration crisis?
``` Kids SPLENOMEGALY LUQ Pain Organomegaly Shock ```
37
What are the signs of acute chest syndrome in sickle cell?
``` Pulmonary infiltrates in lung segments (fat emboli or infection) Pain SOB Fever Wheeze Cough ```
38
How is sickle cell anaemia investigated?
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
How is acute sickle cell managed?
``` IV Morphine IV Fluids & warm Blod transfusion: ↓Hb Fever = Broad & Blind Abx (Amoxicillin) Wheeze = Bronchodilators ```
40
How is chronic sickle cell managed?
``` HAEMOTOLOGIST 1) Hydroxycarbamide: 20mg/kg/d 2) Folic acid/Zinc supplements 3) ?BM transplant (can be curative) ↑↑risk of sepsis: Ceftriaxone ```
41
Do patients with sickle cell need follow-ups?
YES Regular exam - Spleen USS - Transcranial Screen for complications
42
What are the Sx of antiphospholipid syndrome?
``` CLOT: C: Coagulation defect L: Livedo reticularis O: Obstetric (recurrent miscarriage) T: Thrombocytopaenia ```
43
What medications should be given long term to someone with Sickle Cell?
``` 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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