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Haematology Flashcards

1
Q

What is adult haemoglobin made up of?

A

Two alpha and two beta subunits

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2
Q

What is Fetal haemoglobin made up of?

A

Two alpha and two gamma subunits

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3
Q

What is the difference between adult and fetal haemoglobin?

A

FbH has greater affinity to oxygen (binds more easily and more reluctant to let go)

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4
Q

What are on the x and y axis of the oxygen dissociation curve?

A 
X= partial pressure of oxygen
Y= percentage of Hb bound to O2
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5
Q

At what gestation does HbF production begin to decrease?

A

32-36 weeks

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6
Q

At birth, what proportion of haemoglobin is HbF and HbA?

A

50% HbA

50% HbF

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7
Q

By what age do blood cells contain mainly HbA?

A

6 months

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8
Q

What is anaemia?

A

Low level of haemoglobin in the blood

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9
Q

What is the most common cause of anaemia in infancy?

A

Physiologic anaemia of infancy

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10
Q

What are the other causes of anaemia in infancy?

A 
Anaemia of prematurity
Blood loss
Haemolysis
Twin-twin transfusion (unequal distribution)
Haemolysis
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11
Q

What are the most common causes of haemolysis in infancy?

A

Haemolytic disease of the newborn (ABO or rhesus incompatibility)
Hereditary spherocytosis
G6PD deficiency

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12
Q

What is physiologic anaemia of infancy?

A

The normal dip in haemoglobin around 6-9 weeks of age in healthy term babies

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13
Q

What causes physiologic anaemia of infancy?

A

High oxygen levels (caused by high haemoglobin levels at birth) cause negative feedback which suppresses erythropoietin production in the kidneys. This reduces the production of haemoglobin in the bone marrow.

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14
Q

Why are premature neonates more likely to become anaemic?

A

Less time receiving iron from mother
RBC creation cannot keep up with rapid growth in first few weeks
Reduced EPO levels
Blood tests remove large proportion of blood

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15
Q

What test can be done to look for haemolytic disease of the newborn?

A

Direct Coombs test

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16
Q

What are the key causes of anaemia in older children?

A 
Iron deficiency
Blood loss (menstruation)
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17
Q

What are other causes of anaemia in older children?

A 
Sickle cell anaemia
Thalassaemia
Leukaemia
Hereditary spherocytosis/ eliptocytosis
Sideroblastic anaemia
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18
Q

What is a common cause in developing countries of blood loss causing chronic anaemia?

A

Halminth infection (roundwormds, hookworms, whipworms)

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19
Q

How is helminth infection treated?

A

Single dose of albendazole or mebendazole

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20
Q

What are the three types of anaemia?

A

Microcytic
Normocytic
Macrocytic

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21
Q

What are the causes of microcytic anaemia?

A 
TAILS: 
Thallasaemia
Anaemia of chronic disease
Iron deficiency
Lead poisoning
Sideroblastic anaemia
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22
Q

What are the causes of normocytic anaemia?

A 
3A's, 2H's: 
Anaemia of chronic disease
Acute blood loss
Aplastic anaemia
Haemolytic anaemia
Hypothyroidism
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23
Q

What are the two types of macrocytic anaemia?

A

Megaloblastic

Normoblastic

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24
Q

What is the cause of megaloblastic anaemia?

A

Impaired DNA synthesis preventing cell from dividing normally

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25
What causes megaloblastic anaemia?
B12 or folate deficiency
26
What causes normolastic macrocytic anaemia?
``` Alcohol Reticulocytosis Hypothyroidism Liver disease Drugs (azathioprine) ```
27
What are the symptoms of anaemia?
``` Tiredness SOB Headaches Dizziness Palpitations Worsening of other conditions ```
28
What symptoms are specific to iron deficiency anaemia?
Pica (strange dietary cravings) | Hair loss
29
What are the generic signs of anaemis on examination?
Pale Conjunctival pallor Tachycardia Raised resp rate
30
What signs of iron deficiency anaemia may be found on examination?
Koilonychia Angular chelitis Atrophic glossitis Brittle hair/ nails
31
What initial investigations are done into anaemia?
``` FBC Blood film Reticulocyte count Ferritin B12/ Folate Bilirubin Direct Coombs test Haemoglobin electrophoresis ```
32
What is haemoglobin electrophoresis?
Test that measures the different types of haemoglobin in the blood
33
What are reticulocytes?
Immature red blood cells
34
What does a high level of reticulocytes in the blood indicate?
Anaemia is due to haemolysis or blood loss (active production of RBC's to replace lost cells)
35
How is anaemia managed?
Establish underlying cause (e.g. iron supplements, blood transfusions)
36
What are the 3 categories of causes of iron deficiency?
Dietary insufficiency Loss or iron Inadequate absorption
37
Where is iron mainly absorbed?
In duodenum and jejunum
38
What keeps iron in its soluble ferrous (Fe2+) form?
Stomach acid
39
What happens when there is less acid in the stomach?
Soluble ferrous turns into its insoluble ferric (Fe3+) form
40
What medications can interfere with iron absorption and why?
PPIs as they reduce the stomach acid, changing iron into its insoluble form
41
What conditions can cause inadequate absorption of iron?
Those that cause inflammation of the duodenum or jejunum= Coeliac or Crohn's
42
In what form does iron travel around the body?
Ferric ions (Fe3+) attached to transferrin
43
What is transferrin?
Carrier protein
44
What is the total iron binding capacity?
The total space on transferrin molecules for iron to bing
45
What is the transferrin saturation?
The proportion of transferrin molecules that are bound to iron
46
How do you calculate transferring saturation?
Serum iron/ Total iron binding capacity
47
What form does iron take when it is stored in cells?
Ferritin
48
When is extra ferritin released from cells?
When there is inflammation (infection or cancer)
49
What does it suggest if there is low ferritin in the blood?
Iron deficiency
50
Can a person with normal blood ferritin levels still have iron deficiency?
Yes- may be raised due to infection ect
51
Why is serum iron on its own not a very useful measure?
It varies significantly throughout the day
52
What happens to both TIBC and transferrin levels in iron deficiency?
Increase
53
What does the transferrin saturation give a good indication of?
Total iron in the body
54
In an adult, what is the normal transferrin saturation?
30%
55
What is the easiest/ best test to look for iron deficiency?
Total iron binding capacity
56
What are the types of leukaemia that affect children (most--> least common)?
1. Acute lymphoblastic laeukaemia 2. Acute myeloid leukaemia 3. Chronic myeloid leukaemia
57
What age does ALL peak?
2-3 years
58
What age does AML peak?
<2
59
What cells does leukaemia affect?
Stem cells of the bone marrow
60
What does leukaemia cause?
Excessive production of a single type of abnormal white blood cell
61
What does excessive production of a single type of cell in leukaemia lead to?
Pancytopenia (anaemia + Leukopenia + thrombocytopenia)
62
What are the risk factors for developing leukaemia?
``` Radiation exposure furing pregnancy Down's syndrome Kleinfelter syndrome Noonan syndrome Fanconi's anaemia ```
63
What may symptoms of leukaemia include?
``` Fatigue Fever Failure to thrive Weight loss Night sweats Anaemia Bruising Bleeding Lymphadenopathy Bone/ joint pain Hepatosplenomegaly ```
64
What red flags would cause a child to have immediate specialist assessment for leukaemia?
Unexplained petechiae or hepatomegaly
65
If leukaemia is suspected what initial investigation should be done?
FBC within 48 hours
66
What investigations can be done to diagnose leukaemia?
FBC Blood film Bone marrow biopsy Lymph node biopsy
67
What will FBC show in leukaemia?
Anaemia Leukopenia Thrombocytopenia High numbers of abnormal WBC's
68
What may blood film show in leukaemia?
Blast cells
69
What further tests may be done into leukaemia?
CXR CT LP Genetic analysis
70
How is leukaemia primarily treated?
Chemotherapy
71
What are the complications of chemotherapy?
``` Failure Stunted growth/ development Immunodeficiency/ infections Neurotoxicity Infertility Secondary malignancy Cardiotoxicity ```
72
What is the prognosis for ALL?
80% cure rate
73
What is ITP?
Idiopathic thrombocytopenic purpura
74
What is idiopathic thrombocytopenic purpura?
Condition that causes idiopathic low platelet count causing a non-blanching rash
75
What is ITP caused by?
Type II hypersensitivity reaction that causes antibodies to destroy platelets
76
What age does ITP usually present?
Children under 10
77
What might trigger ITP?
Idiopathic or viral infection
78
What are the main symptoms of ITP?
Bleeding (gums, nose, menorrhagia) Bruising Petechial or purpuric rash
79
What are petechiae?
Pin-prick spots (1mm) of bleeding under the skin
80
What are purpura?
Larger (3-10mm) spots of bleeding under the skin
81
What is ecchymoses?
Large area of blood (>10mm) collected under the skin
82
Is the rash in ITP blanching?
Non-blanching
83
How is ITP diagnosed?
Urgent FBC for platelet count
84
What other causes of thrombocytopenia should be excluded when diagnosing ITP?
Heparin induced thrombocytopenia | Leukaemia
85
How is ITP usually managed
Usualy no treatment required and patients monitored until platelets return to normal
86
What percentage of patients remit spontaneously with ITP and how quickly?
70% within 3 months
87
What treatments should be given for severe ITP or if the patient is actively bleeding?
Prednisolone IV immunoglobulins Blood transfusions Platelet transfusions
88
Why do platelet transfusions only work temporarily when treating ITP?
Antibodies against platelets will begin destroying the transfused platelets
89
What key advice should be given to patients with ITP?
Avoid contact sports Avoid IM injections Avoid NSAIDs, aspirin and anticoagulants Seek help after any injury that may cause bleeding
90
What are the complications of ITP?
Chronic ITP Anaemia Intracranial and subarachnoid haemorrhage GI bleed
91
What is sickle cell anaemia?
Genetic condition causing sickle shaped RBC's
92
What does sickle cell anaemia cause?
Haemolytic anaemia
93
What is the pathophysiology of sickle cell anaemia?
Patients have abnormal gene for beta-globin on chromosome 11 which codes for abnormal haemoglobin (HbS) which causes RBCs to become sickle shape
94
What kind of genetic inheritance is sickle cell anaemia?
Autosomal recessive
95
What does one copy of the abnormal beta-globin gene cause?
Sickle-cell trait
96
What do two copies of the abnormal beta-globin gene cause?
Sickle-cell disease
97
Where is sickle cell disease more common?
Africa, India, Middle East, Caribbean
98
What are the benefits of sickle cell trait?
Reduces severity of malaria
99
How is sickle cell anaemia diagnosed?
Women at risk tested during pregnancy | Newborn screening heel prick test
100
What are the complications of sickle cell disease?
``` Anaemia Increased risk of infection Stroke Avascular necrosis of large joints Pulmonary hypertension Priapism CKD Sickle cell crises Acute chest syndrome ```
101
What is the general management of sickle cell disease?
Avoid crises triggers Up to date with vaccines Antibiotic prophylaxis Blood transfusion (Severe anaemia)
102
What can be used to protect against sickle cell crises and acute chest syndrome?
Hydroxycarbamide
103
What is the action of hydroxycarbamide?
Stimulates production of fetal haemoglobin (hbF) which does not lead to the sickling of RBCs
104
What can be used to cure sickle cell anaemia?
Bone marrow transplant
105
What may trigger a sickle cell crisis?
``` Spontaneous Infection Dehydration Cold Significant life events ```
106
How are sickle cell crises managed?
Supportively: Treat infection Keep warm and hydrated Simple analgesia
107
What is priapsim?
Painful and persistent penile erection
108
What are the different types of sickle cell crisis?
Vaso-occlusive crisis Splenic sequestration crisis Aplastic crisis Acute chest syndrome
109
What causes a vaso-occlusive crisis?
Sickle shaped blood cells clogging capillaries and causing distal ischaemia
110
What is haematocrit?
Measurement of the proportion of blood which is made up of cells (Packed cell volume)
111
What is the usual cause of a vaso-occlusive crisis?
Dehydration
112
What are the symptoms of a vaso-occlusive crisis?
Pain | Fever
113
How is priapism treated?
Aspiration of blood from penis
114
What is a splenic sequestrian crisis?
When RBCs block flow in the spleen, causing it to become acutely enlarged and painful
115
What can pooling of blood in the spleen lead to?
Severe anaemia | Hypovolaemic shock
116
How is a splenic sequestrian crisis managed?
Supportive Blood transfusions Fluid resuscitation
117
What may be done if there are recurrent splenic sequestration crises?
Splenectomy
118
What is an aplastic crisis?
Temporary loss of the creation of new blood cells
119
What is the most common trigger of an aplastic crisis?
Infection with parvovirus B19
120
How is aplastic crisis managed?
Supportive with blood transfusions as necessary | Usually resolves within a week
121
What is acute chest syndrome?
Medical emergency caused by sickled cells causing pulmonary infarction/ emboli
122
What must be seen to make a diagnosis of acute chest syndrome?
Fever or respiratory symptoms | New infiltrates on CXR
123
What can cause acute chest syndrome?
Infection (pneumonia or bronchiolitis) | Non-infective (pulmonary vaso-occlusion or fat emboli)
124
How is acute chest syndrome managed?
``` Treat underlying cause: Antibiotics or antivirals Blood transfusions Incentive spirometry Artificial ventilation ```
125
What causes thalassaemia?
Genetic defect in protein chains that make up haemoglobin
126
What are the two types of thalassaemia?
Alpha and beta
127
What genetic inheritance is thalassaemia?
Autosomal recessive
128
What does thalassaemia cause?
RBCs to be more fragile and break down more easily, leading to anaemia and splenomegaly
129
Why do you get splenomegaly in thalassaemia?
The spleen collects all the destroyed red blood cells and there are lots
130
What happens to the bone marrow in thalassaemia?
It expands to produce extra RBCs to compensate for chronic anaemia
131
What are the signs and symptoms of thalassaemia?
``` Microcytic anaemia Fatigue Pallor Jaundice Gallstones Splenomegaly Poor growth/ development Pronounced forehead/ cheekbones ```
132
How is thalassaemia diagnosed?
FBC (microcytic anaemia) Haemoglobin electrophoresis DNA testing Pregnancy screening test
133
What is the key complication of thalassamiea?
Iron overload
134
Why do you get iron overload in thalassaemia?
Due to faulty creation of RBCs, recurrent transfusions and increased absorption of iron in the gut in response to anaemia
135
How is iron overload monitored for?
Monitor serum ferritin levels
136
How is iron overload managed?
Limit transfusions | Iron chelation
137
What are the symptoms of iron overload?
``` Fatigue Liver cirrhosis Infertility Impotence Heart failure Arthritis Diabetes Osteoporosis Joint pain ```
138
What gene codes for alpha globin?
Chromosome 16
139
How is alpha thalassaemia managed?
Blood transfusions Splenectomy Bone marrow transplant
140
What chromosome codes for beta globin chains?
Chromosome 11
141
What are the different types of beta-thalassaemia?
Minor Intermedia Major
142
What is thalassaemia minor?
When patients are carriers of an abnormally functioning beta globin gene (one abnormal, one normal gene)
143
What does thalassaemia minor cause?
Mild microcytic anaemia
144
What is thalassaemia intermedia?
When patients have two abnormal copies of the beta globin gene
145
What are the different genes patients may have in thalassaemia intermedia?
Two defective genes or one defective gene and one deletion gene
146
What does thalassaemia intermedia cause?
More significant microcytic anaemia
147
What is thalassaemia major?
When patients have two deletion genes, meaning they have no functioning beta globin genes
148
How does thalassaemia major usually present?
Severe anaemia Failure to thrive Splenomegaly Bone defomities
149
How is thalassaemia major managed?
Regular transfusions Iron chelation Splenectomy Bone marrow transplant
150
What is iron chelation?
Agent (tablet or infusion) given that binds to iron and allows body to excrete the bound particles
151
What is hereditary spherocytosis?
Condition where RBCs are sphere shaped, making them fragile and easily destroyed
152
In which population is hereditary spherocytosis most common?
Northern Europeans
153
What inheritance pattern in Hereditary spherocytosis?
Autosomal dominant
154
How does hereditary spherocytosis present?
Jaundice Anaemia Gallstones Splenomegaly
155
What are haemolytic crises?
Periods triggered by infections where haemolysis, anaemia and jaundice are more significant
156
What may patients with hereditary spherocytosis develop?
Aplastic crisis
157
What happens in an aplastic crisis?
The body stops producing enough RBCs, leading to anaemia, haemolysis and jaundice
158
What is the common trigger of an aplastic crisis?
Parvovirus
159
How is hereditary spherocytosis diagnosed?
By family history and clinical features | Spherocytes on blood film
160
How is hereditary spherocytosis managed?
Folate supplementation and splenomectomy
161
What is hereditary elliptocytosis?
Autosomal dominant condition causing RBC;s to be an ellipse shape
162
What is G6PD deficiency?
Condition where there is a defect in the G6PD enzyme
163
In which patients id G6PD deficiency more common?
Mediterranean, Middle Eastern and African
164
What is the inheritance pattern of G6PD deficiency?
X-linked recessive
165
Who is usually affected by G6PD deficiency and why?
Males because they only have a single copy of the X chromosome
166
What are the key triggers of a G6PD crisis?
Infections Medications Fava beans
167
What is the action of the G6PD enzyme?
Helps protect cells (especially RBCs) from damage by reactive oxygen species (ROS)
168
What are ROS?
Reactive molecules that contain oxygen, produced during normal cell metabolism and in higher quantities during stress on the cell
169
What does a deficiency in G6PD lead to?
Makes cells more vulnerable to ROS, leading to haemolysis in RBCs, and eventually acute haemolytic anaemia
170
How does G6PD deficiency normally present?
Neonatal jaundice
171
What are the key features of G6PD deficiency?
Intermittent jaundice Anaemia Gallstones Splenomegaly
172
How is G6PD deficiency diagnosed?
Blood film | G6PD enzyme assay
173
What may be seen on blood film of G6PD deficiency?
Heinz bodies (blobs of denatures haemoglobin in RBCs)
174
How is G6PD deficiency managed?
Avoid triggers to acute haemolysis (fava beans, medications)

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