Congenital Anaemias Flashcards

1
Q

What areas can be affected leading to a congenital anaemia?

A
  • The red cell Membrane
  • Metabolic pathways
  • Synthesis of Haemoglobin
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2
Q

The main cause of Red Cell Membrane problem is…

A

Hereditary Spherocytosis (HS)

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3
Q

What is Hereditary Spherocytosis?

A

An autosomal Dominant defect in 5 structural proteins that leads to spherical red cells
They get removed from circ by the RE system

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4
Q

How would someone with HS present?

A
  • Haemolytic Anaemia
  • Neonatal Jaundice
  • Splenomegaly
  • pigment gallstones
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5
Q

How would we treat HS?

A

Folic Acid
Transfusion
Splenectomy

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6
Q

What’s the main problem with metabolic pathways that can lead to anaemia?

A

Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency

X linked, affecting males and carrying in females

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7
Q

How does G6PD deficiency present?

A

Neonatal Jaundice
Splenomegaly
Pigment Gallstones
Anaemia

Drug, broad bean, infection can precipitate –> jaundice, anaemia & haemoglobinuria, intravascular hemolysis

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8
Q

What can cause an episode of haemolysis in G6PD deficiency?

A
  • Broad aka fava beans
  • Infection
  • Drugs:
    Antimalarials, sulphonamides, nitrofurantoin, aspirin, antihelminthics & Vit K analogues
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9
Q

There are 2 categories of condition affecting your Globin chains:

A

1- Reduced/ absent globing chain production: Thalassaemias

2- Mutations to structurally abnormal global chain: Sickle Cell

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10
Q

What are the major types of Thalassaemias?

A

Homozygous Alpha Zero Thalassaemia = No alpha chains

Beta Thalassaemia Major = No Beta chains

Non-transfusion dependant Thalassaemias

Thalassaemia Minor = Carrier State

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11
Q

How does Homozygous Alpha Zero Thalassaemia present?

A

They get hydrops Fetalis so stillborn- incompatible with life

you can get alpha thalassaemias that cause less disruption and so are survivable

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12
Q

A sickly 4 month old comes in, on investigation they are severely anaemic and show bony deformities, splenomegaly and growth retardation. what thalassaemia could it be?

A

Beta Thalassaemia Major

Tends to present at 3-6 months with severe anaemia, deformity, splenomegaly and growth problems, expansion of ineffective bone marrow

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13
Q

How can we treat Beta Thalassaemia Major?

A

4-6 wkly transfusions (hence Transfusion Dependant Anaemia)
Plus Iron Chelation therapy to prevent Iron overload from the transfusions (this can kill you from heart/liver failure)

Bone Marrow Transplant

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14
Q

How is Sickle Cell Disease inherited?

A

Autosomal Recessive

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15
Q

How does Sickle Cell cause problems?

A

You do get a haemolytic anaemia but the worst problems come with vaso-occlusion due to the weird shaped cells

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16
Q

What are the major problems that sickle cell causes?

A
  • Stroke
  • Hyposplenism –> high infection risk
  • Chronic Haemolytic anaemia (+gallstones & aplastic crisis)
  • Sequestration Crises (spleen/liver)
  • Chest Crisis
  • Painful Vaso-occlusive crisis

Can also cause lots of other infarcts e.g. pulm, renal, retinopathy & bone necrosis
As well as Cardiomegaly –> HF

17
Q

How do you treat a Sickle cell patient with a Painful Vaso-occlusive crisis?

A

Pain relief incl Opiates
Fluids
O2
Abx if infected

18
Q

How would a Chest crisis present in sickle cell?

A

Chest pain, fever & worsening hypoxia

Plus infiltrates visible on x-ray

19
Q

How do we treat a chest-crisis in sickle cell?

A
Resp support
Abx
Fluids
Analgesia
Transfusion
20
Q

What can we give sickle cell patients as prophylaxis?

A

Vaccinate (prone to inf)
Penicillin &Anti-malarials (again inf)
Folic Acid (reduce anaemia)

21
Q

What treatments can we give for the actual Sickle Cell Disease (not the acute events)?

A

Transfusion
Disease Modifying Drugs - Hydroxycarbamide (actually a cause of Macrocytic anaemia)
Bone Marrow Transplant
Gene Therapy

22
Q

What’s cool about a G6PD deficiency?

If you don’t think this is cool you don’t deserve to get this right

A

It protects you against malaria so it’s much more common in those parts of the world

Being a carrier of sickle cell also makes you resistant to malaria, however having Sickle Cell Disease makes you more prone to it so you have to take prophylactic drugs

23
Q

What do defects in haem synthesis cause?

A

In mitochondrial part –> Sideroblastic anaemia

In the cytoplasmic part –> Porphyrias

24
Q

What is another rare enzyme deficiency leading to congenital anaemia?

A

Pyruvate kinase deficiency

  • Reduced ATP
  • Increased 2,3-DPG
  • Cells rigid