Congenital Anaemias Flashcards Preview

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Flashcards in Congenital Anaemias Deck (23)
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1

What areas can be affected leading to a congenital anaemia?

The red cell Membrane
Metabolic pathways
Synthesis of Haemoglobin

2

The main cause of Red Cell Membrane problem is...

Hereditary Spherocytosis (HS)

3

What is Hereditary Spherocytosis?

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

4

How would someone with HS present?

Haemolytic Anaemia (Normochromic, normocytic with high reticulocyte count)

Neonatal Jaundice, Splenomegaly & pigment gallstones

5

How would we treat HS?

Folic Acid
Transfusion
Splenectomy

6

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

Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency

X linked, affecting males and carrying in females

7

How does G6PD deficiency present?

Neonatal Jaundice
Splenomegaly
Pigment Gallstones

Along with episodes of haemolytic anaemia --> jaundice, anaemia & haemoglobinuria

8

What can cause an episode of haemolysis in G6PD deficiency?

- Broad aka fava beans
- Infection
- Drugs:
Antimalarials, sulphonamides, nitrofurantoin, aspirin, antihelminthics & Vit K analogues

9

There are 2 categories of condition affecting your Globin chains:

Thalassaemias = mutation --> absent globin chains --> Hypochromic, Microcytic Anaemia

Haemoglobinopathies e.g. Sickle Cell = structurally abnormal globin chains --> Normochromic Normocytic Haemolytic Anaemia

10

What are the major types of Thalassaemias?

Homozygous Alpha Zero Thalassaemia = No alpha chains

Beta Thalassaemia Major = No Beta chains

Non-transfusion dependant Thalassaemias

Thalassaemia Minor = Carrier State

11

How does Homozygous Alpha Zero Thalassaemia?

They get hydrops Fetalis so stillborn

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

12

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?

Beta Thalassaemia Major

Tends to present at 3-6 months with severe anaemia, deformity, splenomegaly and growth problems

13

How can we treat Beta Thalassaemia Major?

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

14

How is Sickle Cell Disease inherited?

Autosomal Recessive

15

How does Sickle Cell cause problems?

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

16

What are the major problems that sickle cell causes?

- 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

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

Pain relief incl Opiates
Fluids
O2
Abx if infected

18

How would a Chest crisis present in sickle cell?

Chest pain, fever & worsening hypoxia
Plus infiltrates visible on x-ray

19

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

Resp support
Abx
Fluids
Analgesia
Transfusion

20

What can we give sickle cell patients as prophylaxis?

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

21

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

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

22

What's cool about a G6PD deficiency?
If you don't think this is cool you don't deserve to get this right

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

What do defects in haem synthesis cause?

In mitochondrial part --> Sideroblastic anaemia

In the cytoplasmic part --> Porphyrias