Anaemia Flashcards

1
Q

Haemolytic anaemia results from increased destruction RBC. Give 3 causes

A
Hereditary spherocytosis
G6PD 
Haemoglobinpathies 
a) sickle cell disease 
B) thalassaemia
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2
Q

How will a neonate present if it suffers from G6PD ?

A

Neonatal jaundice

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3
Q

What’s the cause of sickle cell disease ?

When will this condition classical manifest for the first time?

A

Point mutation in beta-globulin gene

Results in 2 alpha and 2 mutated beta globulin

After 6 month
Cause then the Hb F will be replaced by Hb A ( Hb F does not have a beta - chain )

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4
Q

A child with sickle cell disease shows which symptoms ?

A

Haemolytic anaemia
Jaundice ( chronic haemolysis )
Infection ( hyposlpenism )

Painful crisis : Vaso- occlusion due to faulty red blood cells
Eg acute chest syndrome , hand foot syndrome ( dactylitis )

Painful errection
Splenomegaly
Aplastic crisis : when infected with parvovirus B19 ( complete absence of RBC production )

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5
Q

How to manage a patient with sickle cell anaemia?

A

Prophylactic : vaccination - prevent infection
Folic acid
Avoid : cold , stress, excessive exercise , hypoxia

Acute crisis : analgesia , hydration , AB acute chest syndrome : exchange transfusion

Hydroxyurea - promotes Hb F production

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6
Q

What’s the only cure of sickle cell anaemia ?

A

Bone marrow transplant

only possible if HLA identical sibling

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7
Q

Sickle cell

Disease and thalassemias show both the same inheritance pattern. Which one?

A

Autosomal recessive

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8
Q

What is thalassaemia and what different types

Are there ?

A

A genetic defect in either alpha or beta globin chain leading to less HbA production

Alpha - thalassaemia
Beta - thalassaemia

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9
Q

What are clinical features of beta - thalassaemia ?

A

Transfusion dependent anaemia
Failure to thrive
Jaundice

If no transfusion -> extramedullary haemopoiesis ( hepatosplenomegaly and bone marrow expansion)

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10
Q

How to manage a patient with beta thalassaemia ?

A
Regular blood transfusion
But this causes iron overload
So always add
Iron chelation :
- s.c desferrioxamine or oral deferasoeix 

Only cure bone marrow transplant

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11
Q

What is Hb Bart disease ?

A

All 4 alleles of alpha globin chain mutated

-> hydrous fetalis

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12
Q

Which further parameters are you looking at in the differentiation of anaemia ?

A

Reticulocytes
Bilirubin
Iron , Ferritin

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13
Q

Causes of microcytic anaemia

A

Iron deficiency
Thalassaemia
Sideroblastic anaemia

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14
Q

Causes of normocytic anaemia

A
Blood loss 
Chronic disease 
Bone marrow failure
Renal failure 
Hypothyroidism 
Haemolysis 
Pregnancy
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15
Q

Signs of macrocytic anaemia

A

B12 and folate deficiency

Non-megaloblastix
Alcohol and liver disease 
Reticulocytosis
Cytotoxics
Marrow infiltration 
Phenytoin 
Myelodysplastic syndrome 
Hypothyroidism
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16
Q

Explain the blood test results in haemolytic anaemia .

A
Low HB, macrocytic 
Low haptoglobin 
High reticulocytes 
High bilirubin -> mild jaundice 
High urinary urobilinogen (no urinary cong. Bili )
17
Q

When would you consider a blood transfusion?

A

Clinically unwell patient

Hb < 70 g|L

18
Q

Explain the features of iron deficiency anaemia and it’s causes

A

Microcytic hypochromic anaemia
Low ferritin

Inadequate uptake, malabsorption eg coeliac disease, blood loss (menorrhagia, GI bleeding ) hockworm

19
Q

Give 2 causes for red cell aplasia.

How can you differentiate to haemolytic anaemia ?

A

Diamond-blackfan anaemia (congenital )
Parvovirus B19

Reticulocytes are low , bilirubin normal

20
Q

What’s pernicious anaemia ?

A

Autoimmune -> atrophic gastritis -> lack of intrinsic factor and B12 absorption

21
Q

What is sideroblastic anaemia ?

A

Microcytic
Ineffective erythropoiesis
Increased iron absorption
Iron loading in marrow -> sideroblasts

22
Q

Causes of B12 deficiency

What are it’s clinical features ?

A

Vegans : no meat , fish, diary products
Malabsorption ( gastric atrophy, post gastrectomy , Crohn’s , terminal ileum resection )

Lemon tinge to skin - pallor+mild jaundice 
Glossitis (beefy red sore tongue )
Angular Cheilosis 
Depression, dementia
Neurological triad :
- + babinski (UMN)
- absent knee reflex (LMN)
-absent ankle reflex ( LMN)
23
Q

What does the direct Coombs test indicate ?

When is it used?

A

In haemolytic anaemia

It detects antibodies on RBCs , indicates an immune cause

24
Q

What does the indirect Coombs test show? When is it used?

A

In pre natal testing or before blood transfusion

Detects antibodies against RBC that are free in serum
+ if agglutination occurs