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Iron - Anaemia and Overload Flashcards

1
Q

What is anaemia?

A

Insufficient amount of red blood cells or Hb

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2
Q

In which circumstances is Hb not a good measure of RBC mass, and why?

A

Acute haemorrhage - there is no change in Hb as even though there is a lot of RBC loss the loss is proportional to other components
Large volume fluid restriction - plasma expands showing a reduction in Hb when there is no RBC loss

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3
Q

What is the general presentation of anaemia?

A 
Exertional SOB
Dizziness
Palpitations
Fatigue
Headache
Fainting
Anorexia
Conjunctival or general pallor
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4
Q

What are the 2 main classifications of anaemia?

A

Microcytic

Macrocytic

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5
Q

What is the pathophysiology of microcytic hypochromic anaemia?

A

Reduction in Hb production which means Hb level in cells takes longer to build up and switch off cell division
Cells divide more so RBCs are smaller and paler

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6
Q

What aspects of Hb can go wrong leading to reduction in Hb production?

A

Haem group
Porphyrin ring
Globin chain

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7
Q

What are the causes of microcytic anaemia, and which components of Hb are defective in each?

A 
Thalassaemia - globin chain
Anaemia of chronic disease - haem group
Iron deficiency - haem group
Lead poisoning - porphyrin ring
Sideroblastic anaemia - porphyrin ring
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8
Q

What is iron deficiency?

A

Anaemia caused by there being insufficient iron to produce haemoglobin
Not a diagnosis - look for a cause

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9
Q

What are causes of iron deficiency anaemia?

A

Chronic blood loss (menorrhagia, GI bleeds)
Malabsorption (coeliac, post-gastrectomy)
Poor dietary intake
Infection (hookworm)
Contributing factors (lots of tea, PPIs, age)

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10
Q

What is the presentation of iron deficiency anaemia?

A

General features of anaemia (fatigue, exertion SOB, dizziness, headache, fainting etc)
Koilonychia
Angular stomatitis, atrophic gastritis
Post-cricoid webs

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11
Q

What do iron studies show in iron deficiency anaemia?

A

Low serum ferritin

Low % transferrin saturation

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12
Q

What is the management of iron deficiency anaemia?

A

Look for a cause, treat that

Oral iron replacement (ferrous sulphate or fumarate)

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13
Q

What are the side effects of oral iron replacement?

A

Nausea
Black stool
Diarrhoea
Constipation

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14
Q

How much should Hb increase on iron replacement?

A

10 per week

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15
Q

Who should be referred for GI screening in iron deficiency anaemia?

A

Iron deficiency anaemia with dyspepsia
Iron deficiency anaemia with rectal bleeding or symptoms of colorectal cancer
Iron deficiency anaemia not responding to treatment

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16
Q

What is sideroblastic anaemia?

A

Disorder of production of the porphyrin ring

This leads to ineffective erythropoiesis, driving iron absorption and deposition in organs other than the liver

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17
Q

What are the causes of sideroblastic anaemia?

A

X linked hereditary
Chemotherapy
Anti-TB drugs
Lead poisoning

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18
Q

What will a marrow biopsy show in sideroblastic anaemia?

A

Ring sideroblasts

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19
Q

What is seen on blood film in sideroblastic anaemia?

A

Atypical blood cells of varying sizes and shapes

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20
Q

What is seen in iron studies in sideroblastic anaemia?

A

High iron
High ferritin
High transferrin saturation

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21
Q

What is the management of sideroblastic anaemia?

A

Treat underlying cause if any

Regular blood transfusions

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22
Q

What is thalassaemia?

A

A group of conditions of defective production of globing chains in Hb
Abnormal cells are small and more susceptible to premature haemolysis

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23
Q

What is the cause of thalassaemia?

A

Hereditary - autosomal recessive

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24
Q

What are the types of thalassaemia?

A

Alpha thalassaemia - trait, HbH disease, Hb Barts hydros fettles
Beta thalassaemia: trait, intermedia, major

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25
What is alpha thalassaemia?
Alpha globin chain is affected | One or more alpha genes are deleted
26
How many alpha genes are there, and which chromosome are they on?
4 - chromosome 16
27
Which types of Hb are affected in alpha thalassaemia?
HbA HbA2 HbF
28
Which genes are missing in alpha thalassaemia trait?
1 or 2 alpha genes
29
What are the clinical features of alpha thalassaemia trait?
Asymptomatic carrier state
30
What do investigations show in alpha thalassaemia trait?
May have microcytic hypochromia | Ferritin will be normal
31
What is the treatment of alpha thalassaemia trait?
None needed
32
Which genes are missing in HbH disease?
3 - only one alpha gene left
33
What is the pathophysiology in HbH disease?
Reduction in alpha chains so excess beta chains form tetramers called HbH
34
Why is HbH bad?
It's unstable and has an extremely high oxygen affinity, making it ineffective as an oxygen delivery device
35
What do investigations show in HbH disease?
Moderate anaemia | Very low MCV and MCH (disproportionate the the anaemia)
36
What are the clinical features of HbH disease?
Jaundice Splenomegaly Leg ulcers Gallstones
37
What is the management of HbH disease?
May need transfusion in circumstances such as intercurrent infection If severe - regular transfusions, splenectomy
38
Which genes are missing in Hb Barts hydros fetalis?
All - no functional alpha genes
39
What are the clinical features of Hb Barts hydros fetalis?
``` Incompatable with life Profound anaemia Cardiac failure Growth retardation Severe hepatosplenomegaly ```
40
What is the pathophysiology of Hb Barts hydros fetalis?
Minimal or no alpha chain production so HbF and HbA can't be made Tetramers of Hb Barts and HbH are produced
41
What is beta thalassaemia?
Beta globin chain is affected | Reduced or absent beta chain production
42
What is the usual mutation in beta thalassaemia?
Point mutation
43
Which types of Hb are affected in beta thalassaemia?
Only HbA
44
How many beta genes are there?
2
45
What genes are affected in beta thalassaemia trait?
1 reduced or absent beta gene
46
What are the clinical features of beta thalassaemia trait?
Asymptomatic
47
What does FBC and Hb analysis show in beta thalassaemia trait?
No/mild anaemia Low MCV, MCH Raised HbA2
48
What is the management of beta thalassaemia trait?
None needed
49
What genes are affected in beta thalassaemia intermedia?
2 reduced beta genes or 1 reduced and one absent gene
50
What are the clinical features of beta thalassaemia intermedia?
``` Similar to HbH disease (Jaundice Splenomegaly Leg ulcers Gallstones) ```
51
What is the management of beta thalassaemia intermedia?
Occasional transfusion
52
What genes are affected in beta thalassaemia major?
All - no functional beta genes
53
What are the clinical features of beta thalassaemia major?
``` Presents at 6-24 months (as HbF fails) Pallor Failure to thrive Hepatosplenomegaly Skeletal changes Organ damage Caused by extra medullary haematopoiesis ```
54
What does Hb analysis show in beta thalassaemia major?
Mainly HbF High HbA2 No HbA
55
What is the management of beta thalassaemia major?
Lifelong transfusion dependency | Bone marrow transplant may be an option if carried out before complications
56
What is the risk of treatment of beta thalassaemia major?
Iron overload
57
What is anaemia of chronic disease?
Diseases which cause chronic inflammation can cause anaemia Inflammatory cytokines cause problems with iron utilisation Iron is being absorbed so stores are high but Hb is low
58
How do inflammatory cytokines cause problems with iron utilisation?
Increase production of hepcidin (which inhibits release of iron from cells) Reduces erythropoietin (which stimulates erythropoiesis) Inhibit bone marrow production of erythrocytes Macrophage red cell destruction is increased
59
What are some causes of anaemia of chronic disease?
``` Malignancy Hypothyroidism Chronic infection Connective tissue disease CKD ```
60
What do investigations show in anaemia of chronic disease?
FBC: low Hb, can be microcytic or normocytic | High ferritin
61
What is macrocytic anaemia?
Low Hb with large, hyperchromic red cells
62
What is the pathophysiology of macrocytic anaemia?
Cells become large due to defective nuclear maturation and DNA synthesis This leads to growth without division Due to their size the cells are more prone to early breakdown
63
What is the main classification of macrocytic anaemia?
Megaloblastic | Non-megaloblastic
64
What are megaloblasts?
Abnormally large, nucleated red cell precursors
65
How do B12 and folate contribute to erythropoiesis?
Required for DNA synthesis
66
What are the sources of B12 and folate?
B12 - animal foods | Folate - plant foods
67
Where are B12 and folate absorbed?
B12 - terminal ilium | Folate - duodenum
68
How is B12 absorbed?
By binding to intrinsic factor
69
How long are B12 and folate stored in the body?
B12 - 2-4 years | Folate - 4 months
70
What are causes of B12 deficiency?
Diet: vegan, alcoholism Stomach: pernicious anaemia, gastrectomy, PPI, anti-histamines Small intestine: bacterial overgrowth, coeliac disease, Crohn's disease, bowel resection Chronic pancreatitis
71
What is pernicious anaemia?
Autoimmune atrophic gastritis causing reduction in intrinsic factor
72
What are the autoantibodies in pernicious anaemia?
Anti gastric parietal cell | Anti intrinsic factor
73
What are causes of folate deficiency?
Low intake: poverty, old age, alcoholism Malabsorption: coeliac, tropical sprue Increased demand: pregnancy, malignancy, myelofibrosis, exfoliating dermatitis, haemolytic anaemia Drugs: methotrexate, trimethoprim, anticonvulsants
74
What is the presentation of B12 and folate deficiency?
Symptoms of anaemia Mouth - glossitis, angular stomatitis Jaundice Psychiatric - irritability, depression
75
What clinical features are seen in B12 deficiency (not folate)?
Neurological - numbness, tingling, subacute combined degeneration of the cord (paraesthesia, ataxia, weakness)
76
What do investigations show in B12 and folate deficiency?
Low serum B12/folate FBC - low Hb, high MCV, reticulocytes Bone marrow biopsy: megaloblasts Blood film: howel jolly bodies, hyper-segmented neutrophils
77
What is the management of B12 and folate deficiency?
Folate - folate tablets | B12 - IM B12 (for life)
78
What are causes of non-megaloblastic macrocytosis?
``` Alcohol Pregnancy Hypothyroidism Liver disease Marrow failure: myelodysplasia, aplastic anaemia, myeloma ```
79
What is seen on blood film in macrocytosis caused by liver disease?
Target cells
80
What is spurious macrocytosis?
False macrocytosis where the volume of the mature red cell is normal but the MCV is measured as high
81
What are the causes of spurious macrocytosis?
Reticulocytosis | Cold-agglutinins
82
What is reticulocytosis?
Increase in reticulocyte numbers as a marrow response to acute blood loss or haemolysis MCV measured as higher as reticulocytes are bigger than mature RBCs
83
What are cold agglutinins?
Abnormal proteins produced in certain cancers or infections Cause clumping of red cells at lower temperatures The clumps are registered as one giant cell Causes extraordinarily high MCV
84
What is the pathophysiology of sickling disorders?
Mutation of beta globin chain which alters the structure, chainging it from Hb to HbS This distorts the cell, damaging the membrane and leading to formation of rod/needle-like structures in the cell Makes it more prone to binding to vascular epithelium - more sticky
85
What are the types of sickling disorders?
Sickle cell trait Sickle cell anaemia Sickle cell disease Sickle crisis
86
What genes are affected in sickle cell trait?
One normal, one abnormal beta gene
87
What are the clinical features of sickle cell trait?
Asymptomatic | May sickle in severe hypoxia, e.g. high altitude, under anaesthesia
88
What do investigations show in sickle cell trait?
Blood film normal | Hb analysis: mainly HbA, HbS <50%
89
What genes are affected in sickle cell anaemia?
2 abnormal beta genes
90
What do investigations show in sickle cell anaemia?
Blood film: sickle cells | Hb analysis: HbS >80%, no HbA
91
What are the clinical features of sickle cell anaemia?
Episodes of sickle crisis (severe pain and variable other symptoms) Chronic haemolysis Splenic infarcts - leading to hyposplenism
92
What causes splenic infarcts in sickle cell anaemia?
Sequestration of sickled RBCs in liver and spleen
93
What genes are affected in sickle cell disease?
One beta gene causing HbS, plus another beta chain mutation
94
What are the clinical features of sickle cell disease?
Same as sickle cell anaemia
95
What is sickle crisis also known as?
Sickle vaso-occlusion
96
What is the pathophysiology of sickle crisis?
Sickle cells can get wedged, stick to vessel wall and block microvascular flow Inflammatory response and recruitment of neutrophils and platelets Leads to tissue ischaemia and pain
97
What factors precipitate sickle crisis?
``` Hypoxia Dehydration Infection Cold exposure Stress/fatigue ```
98
What is the treatment of sickle crisis?
``` Opiate analgesia Hydration Rest Oxygen Red cell exchange in severe crisis (lung, brain) ```
99
What measures are taken as long-term management of sickling disorders?
Prophylactic penicillin and vaccination to reduce the risk of infection Folic acid supplementation Hydroxycarbamide (reduces severity by increasing HbF production) Regular transfusion to prevent stroke in selected cases (e.g. children who have had strokes)
100
What are causes of iron overload?
Hereditary haemochromatosis | Long term transfusions
101
What disorders require long-term transfusions?
Thalassaemia | Sideroblastic anaemia
102
What is hereditary haemochromatosis?
Genetic condition with increased iron absorption due to mutations that reduce the production of hepcidin
103
What is the pathophysiology of hereditary haemochromatosis?
Reduced production of hepcidin results in increased iron absorption (as heparin inhibits absorption of iron) This results in iron deposition in tissues other than the liver, which causes inflammation and end organ damage
104
What are the clinical features of hereditary haemochromatosis?
Usually presents in middle age or later Early: fatigue, arthralgia, weakness Late: slate grey skin, liver failure, diabetes (to then bronzed diabetes), cardiomyopathy
105
What do investigations show in hereditary haemochromatosis?
Abnormal LFTs | Iron studies: high iron, high ferritin
106
What is the management of hereditary haemochromatosis?
Regular venesection
107
What causes secondary iron overload?
Anaemias can cause overactive erythropoiesis, leading to excessive iron absorption These patients also require regular blood transfusions which makes this worse
108
What disorders cause secondary iron overload?
Thalassaemia Sideroblasdtic anaemia Red cell aplasia Myelodysplasia
109
What is the treatment of secondary iron overload?
NOT venesection - as the patients are already anaemic | Iron chelating agents - desferrioxamine, deferiprone, deferasirox
110
What is haemolysis?
The premature breakdown of red blood cells
111
What is the body's response to haemolysis?
Erythroid hyperplasia | Reticulocytosis
112
What do reticulocytes look like?
Larger and more blue/purple on film
113
What are the different types of haemolysis?
Extravascular | Intravascular
114
What is extravascular haemolysis?
Breakdown of RBCs outside of the circulation - in the liver and spleen
115
Is extravascular haemolysis pathological or physiological?
Both
116
Which breakdown products are detected in extravascular haemolysis?
Normal products in excess | Unconjugated bilirubin
117
What are causes of extravascular haemolysis?
Autoimmune haemolytic anaemia Thalassaemia Sickle cell disease Hereditary spherocytosis
118
What is intravascular haemolysis?
Pathological breakdown of red cells within the circulation
119
Which breakdown products are detected in intravascular haemolysis?
Abnormal products Haemoglobinaemia Met-haem-albuminaemia Haemoglobinuria
120
What feature of urine demonstrates haemoglobinuria?
Pink urine, turns black when left to stand
121
What are causes of intravascular haemolysis?
``` Drug-induced ABO mismatch blod transfusion G6PD deficiency Severe malaria Microangiopathic haemolytic anaemia ```
122
Does haemolysis always cause anaemia, why?
No In compensated haemolysis Hb is maintained by reticulocytosis In decompensated haemolysis Hb is not maintained and anaemia results
123
What are the general clinical features of haemolysis?
Jaundice Change in colour of urine Abdominal pain/swelling
124
What aspects of haemolysis cause which abnormalities on blood film?
Membrane damage - spherocytes Mechanical damage - red cell fragments Oxidative damage - Heinz bodies HbS - sickle cells
125
What does the Coomb's test test for?
Direct Coomb's test - positive in autoimmune disease | Indirect Coomb's test - positive in immune response to foreign antibodies
126
What ways can causes of haemolysis be classified?
Haemolysis of normal red cells Haemolysis of red cells with abnormal membrane Haemolysis of red cells with abnormal metabolism Haemolysis of red cells with abnormal haemoglobin
127
What are the causes of haemolysis of normal red cells?
Autoimmune haemolysis | Alloimmune haemolysis
128
What type of haemolysis is autoimmune haemolysis?
Extravascular
129
How is autoimmune haemolysis classified?
Warm or cold autoantibody - the temperature in which the antibodies bind
130
Which immunoglobulin is responsible in warm autoantibody autoimmune haemolysis?
IgG
131
Which immunoglobulin is responsible in cold autoantibody autoimmune haemolysis?
IgM
132
What are the causes of warm and cold autoantibody autoimmune haemolysis?
Warm - idiopathic | Cold - idiopathic or secondary to leukaemia, lymphoma
133
Is direct or indirect Coomb's test positive in warm and cold autoantibody autoimmune haemolysis?
Warm - direct | Cold - indirect
134
What are the causes of alloimmune haemolysis?
``` Disseminated intravascular coagulation Haemolytic uraemia syndrome Thrombotic thrombocytopenia purpura Leaking heart valve Infections (e.g. malaria) Severe burns ```
135
Why do leaking heart valves cause alloimmune haemolysis?
Red cell fragmentation occurs due to mechanical damage on the damaged valve
136
What cells are seen on blood film in alloimmune haemolysis, and what do they look like?
Schistocytes - red cell fragments | Irregularly shaped, jagged, 2 pointed ends
137
What is the main cause of haemolysis of cells with abnormal cell membrane?
Hereditary spherocytosis
138
What is the inheritance pattern of hereditary spherocytosis?
Autosomal dominant
139
What is the pathophysiology of hereditary spherocytosis?
Reduced membrane deformability means increased transit time though the spleen Oxidant environment in the spleen causes extravascular red cell destruction Leads to chronic extravascular haemolysis
140
What are the clinical features of hereditary spherocytosis?
``` Young children with family history of splenectomy Jaundice Splenomegaly Mild anaemia Increased risk of gallstones ```
141
What cells are seen on blood film in hereditary spherocytosis?
Spherocytes
142
What is the long-term management of hereditary spherocytosis?
Folate replacement | Splenectomy is curative
143
What is the management of hereditary spherocytosis in a haemolytic crisis?
Supportive | Transfusion if necessasry
144
What is the main cause of haemolysis of cells with abnormal red cell metabolism?
G6PD deficiency
145
What is the inheritance pattern of G6PD deficiency?
X linked
146
What is the pathophysiology of G6PD deficiency?
Deficiency of an enzyme in red cell metabolism - a pathway that prevents against oxidative stress, and generates energy When exposed to increased oxidative stress the red cells undergo intravascular haemolysis
147
What is the presentation of G6PD deficiency?
Rapid onset jaundice and anaemia after exposure to: - henna - acute illness - broad beans - drugs: aspirin
148
What are the features of G6PD deficiency on a blood film?
Heinz bodies, bit cells
149
What is diagnostic for G6PD deficiency?
Enzyme assay - showing reduced G6PD
150
What is the management of G6PD deficiency?
Avoid triggers | Transfuse if acutely anaemic

Y3 - Haem (9 decks)

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