Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Phase1c Medicine > Clinical Haematology > Flashcards

Clinical Haematology Flashcards

1
Q

What are the basic features of anaemia?

A

Pale conjunctivae
Fatigue
Increased RR and HR in severe forms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is aniso-poikilocytosis?

A

Different shaped RBCs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are the causes of IDA?

A

Reduced uptake

  • Malnutrition
  • Coeliac
  • IBD

Increased Loss

  • GI malignancy
  • Peptic ulcer
  • IBD
  • Menstruation

Increased requirement

  • Pregnancy
  • Breast feeding
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

A triad of IDA, change in bowel habit and PR bleeding is suggestive of what?

A

Colon cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the triad of colon cancer?

A

IDA
Change in bowel habit
PR bleeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What hormone is indicated in anaemia of chronic disease?

A

Hepcidin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is the function of hepcidin?

A

Reduced iron uptake
Decreased iron transport
Increased storage of iron

-Reduced circulating iron

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is raised in anaemia of chronic disease?

A

Ferritin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Is TIBC raised or reduced in anaemia of chronic diseae?

A

Decreased

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Is ferritin raised or decreased in IDA?

A

Reduced

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What happens to the TIBC in anaemia of chronic disease?

A

Increased

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What type of anaemia is typically associated with ACD?

A

Normocytic anaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What type of protein is ferritin?

A

Acute-phase protein - raised in infections.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the inheritance pattern of thalassaemia?

A

Autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the two types of thalassaemia?

A

Alpha defect

Beta defect - minor, intermediate and major

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the three variants of alpha defect of thalassaemia?

A

Alpha +
Alpha*
HbH
Hb Barts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What type of anaemia is associated with thalasseamia?

A

Microcytic anaemia
Normal iron studies
Gel electrophoresis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What physiological advantage is occurred with thalassaemia minor?

A

Resistance to falciparum malaria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the long term management for beta-thalassaemia major?

A

Regular red cell transfusions every 2-4 weeks with iron chelation regime

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Which thalassaemia Hb chains remain constant from birth?

A

Alpha chains

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

When does Hb Beta chains increase?

A

Increase from early infancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are the components of HbA1?

A

2-alpha, 2 beta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are the components of HbA2?

A

2a and2 delta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What are the components of HbF?

A

2a and 2y

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is the hereditary pattern for sickle cell disease?

A

Autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What are the predisposing factors for sickling?

A

Hypoxia
Dehydration
Acidosis
Infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What characteristic cell is associated from SCD?

A

Howell-Jolly body

And sickle cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What occurs in a sickle cell crisis?

A

Acute painful crisis
Stroke
Sequestration crisis
Chronic cholecytisis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What is the management of an acute painful crisis?

A 
Saturate with supportive oxygen
Antibiotics (if needed)
Pain relief
Cannula (IV fluids)
Crizanlizumab for prevention
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What investigations are performed for the diagnosis of sickle cell anaemia?

A

Hb electrophoresis and blood film

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What are the medical therapies available for the management of sickle cell anaemia?

A

Vaccinations
Hydroxyurea
Hydroxycarbamide
Prophylactic ABx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What is the surgical/curative management for SCA?

A

Bone marrow transplant (curative)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What are the features of SCA?

A 
Haemolytic anaemia
Dactylitis
Acute chest syndrome
Pripaism
Aplastic crisis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What is the cause of megaloblastic anaemia?

A

Folate or B12 deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What type of neutrophils are associated with folate and B12 deficiency?

A

Hypersegmented neutrophils

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What are the causes of vitamin b12 deficiency?

A

Alcohol
IBD and coeliac disease
Pernicious anaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What are the causes of folate deficiency?

A

Alcohol
IBD & coeliac
Anti-folate drugs
Pregnancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What are the neurological signs are associated with B12 deficiency?

A

Glove and stocking paraesthesia
Hyporeflexia
Romberg’s positive
Subacute degeneration of the spinal cord

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What autoantibodies are associated with B12 deficiency?

A

Anti-parietal cells

Anti-intrinsic factor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What are the causes of non-megaloblastic macrocytic anaemia?

A

Myelodysplasia
Hypothyroidism
Liver disease
Alcohol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What are the common causes of microcytic anaemia (IDA)?

A

GI blood loss from hookwork infections

Reduced absorption (Small bowel disease)

Increased demands

Reduced intake

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What hormone is elevated in anaemia of chronic disease?

A

Hepcidin - Suppresses iron absorption and transport

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What is the presentation of IDA?

A 
Tiredness
Lethargy
Malaise
Dyspnoea
Pallor
Palpitations
Exacerbations of ischaemic conditions
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What is the presentation of lead poisoning (Haem)

A 
Anorexia
Nausea/vomiting
Abdominal pain
Constipation
Peripheral nerve lesions
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What are the main causes of microcytic anaemia?

A 
Thalassemia
Anaemia of chronic disease
Iron deficiency anaemia
Lead poisoning 
Sideroblastic anaemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What examination signs are seen in iron deficiency anaemia?

A

Glossitis
Angular stomatitis
Pallor
Koilonychia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What are the examination signs for lead poisoning induced anaemia?

A

Blue gumline
Peripheral nerve lesions (causing wrist or foot drop)
Convulsions
Reduced consciousness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What is the serum ferritin in IDA?

A

Ferritin is low in IDA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Why is serum ferritin raised in anaemia of chronic disease?

A

Is an acute phase protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What is the TIBC level in IDA?

A

High in IDA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What is the transferrin level in IDA?

A

Raised

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What is the transferrin saturation level in IDA?

A

Low

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

What signs are seen in a blood film for IDA?

A

Microcytic anaemia
Hypochromic
Anisocytosis
Poikilocytosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What blood film signs are seen in sideroblastic anaemia?

A

Dimorphic blood film
Hypochromic microcytic cells
Ring sideroblasts in the bone marrow

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

What blood film signs are see in lead poisoning?

A

Basophilic stippling

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What is the first-line management for iron deficiency anaemia?

A

Ferrous sulphate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What is the management for sideroblastic anaemia?

A
  • Treat underlying cause
  • Pyridoxine used in inherited forms
  • Blood transfusions and iron chelation can be considered if there is no response to other treatments.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What is the management for lead poisoning induced anaemia?

A
  • Remove the source
  • Dimercaprol
  • D-penicillamine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

What are the complications for IDA?

A

High-output cardiac failure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

What are the causes of normocytic anaemia?

A

Acute blood loss - peptic ulcer, trauma, oesophageal varices

Failure of RBC production

Haemolysis

Uncompensated increase in plasma volume

Hypersplenism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

What is macrocytic anaemia?

A

Anaemia is associated with an elevated MCV of erythrocytes (>100 fL in adults). Megaloblastic refers to a delay in the maturation of the nucleus while the cytoplasm continues to mature.
• Structurally abnormal, immature red cells (Oval macrocytes).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Which drugs are indicated in interfering with DNA synthesis resulting in macrocytic anaemia?

A
  • Azathioprine
  • Methotrexate (Dihydrofolate reductase inhibitor)
  • Hydroxyurea
  • Zidovudine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

What are the causes of macrocytic anaemia?

A

• Vitamin B12/Folate deficiency
• Use of drugs interfering with DNA synthesis:
- Azathioprine
- Methotrexate (Dihydrofolate reductase inhibitor)
- Hydroxyurea
- Zidovudine
• Liver disease and ethanol toxicity
• Haemolytic anaemia (Reticulocytosis increased)
• Myelodysplasias

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

Which two vitamin deficiencies result in macrocytic anaemia?

A

Folic acid

B12 deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

What is the function of B12?

A

• B12 is required for DNA synthesis and the integrity of the nervous system.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

Where is b12 ultimately absorbed?

A

Terminal ileum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

Which gastric peptide facilitates the absorption of vitamin b12?

A

Intrinsic factor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

What are the common causes of vitamin b12 deficiency?

A

Inadequate diet veganism

Gastrectomy -

Autoimmune
-Pernicious anaemia

Crohn’s disease - Ileal resection

Dietary: Poverty alcoholism

Malabsorption
•	Coeliac disease
Jejunal resection
Pregnancy
Lactation

Increased cell turnover: Haemolysis

Poverty alcoholism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

What is the definitive management for pernicious anaemia?

A

Hydroxocobalamin injections (IM)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

What is the most common cause of B12 deficiency?

A

Pernicious anaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

What are the signs of pernicious anaemia?

A

Mild jaundice
Glossitis (Beefy)
Angular stomatitis
Weight loss

Signs of anaemia

  • Pallor
  • Tachycardia
  • Breathlessness
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

What are the neurological signs of B12 deficiency?

A

Peripheral neuropathy
Ataxia
Subacute combined degeneration of the spinal cord
Optic atrophy
Dementia
Positive Babinski’s sign - absent ankle reflex, upwards plantars

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

What blood test investigations are performed for macrocytic anaemia?

A

High MCV, low haematocrit

Serum B12 and folate

Red cell folate

Anti-parietal cell and anti-intrinsic factor antibodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

What autoantibodies are associated with pernicious anaemia?

A

• Anti-parietal cell and anti-intrinsic factor antibodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

What does a peripheral blood smear reveal in pernicious anaemia?

A
  • Megaloblasts (Large with nucleocytoplasmic dissociation)

* Hypersegmented polymorphonucleated cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

Which dietary supplements are administered in b12 deficiency?

A

• Dietary supplements – PO cyanocobalamin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

What is the management for folate deficiency?

A

Oral folic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

Is there is co-existing B12 deficiency with folate acid deficiency, which should be treated first?

A

• If B12 deficiency is present – Treated prior to the folic acid deficiency as B12 is required for folate uptake.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

Why is prophylactic folate administered during pregnancy from conception until 12 weeks?

A

To prevent spina bifida

80
Q

What risk is associated with chronic pernicious anaemia?

A

Gastric carcinoma

81
Q

What complications are associated with folate deficiency during pregnancy?

A

Increases risk of neural tube defects - Spina bifida

82
Q

What is the lifespan for RBCs?

A

120 days

83
Q

What are the two types of haemolysis?

A

Intravascular and extravascular

84
Q

What is intravascular haemolysis?

A

Occurs in circulation to damaged RBCs

85
Q

What is extravascular haemolysis?

A

Occurs in the reticuloendothelial system (Macrophages of the liver, spleen and bone marrow remove defective RBCs)

86
Q

What are hereditary membrane defects of haemolysis?

A

Spherocytosis

Elliptocysosis

87
Q

What are the metabolic defects for haemolysis?

A

G6PD deficiency

Pyruvate kinase deficiency

88
Q

What are the abnormal defects for haemolysis?

A

Sickle cell anaemia

89
Q

What are the auto-immune causes of haemolysis?

A

Autoimmune hamolytic anaemia

90
Q

Which drugs are associated with haemolysis?

A

Penicillin

Quinine

91
Q

What are the causes of microangiopathic haemolytic anaemia?

A

Caused by RBC fragmentation in abnormal microcirculation - intravascular

-Haemolytic anaemia in which red blood cells lyse due to shear forces encountered as they pass through small blood vessels

92
Q

Which test is used to investigate autoimmune haemolytic anaemia?

A

Direct antiglobulin test (DAT)

93
Q

What blood findings are reveaedl in haemolytic anaemia?

A 
Low Hb
High reticulocytes
High MCV
High unconjugated
Low haptogloblin
Raised serum LDH
94
Q

What cells are associated with thalassemia?

A

Hypochromic microcytic anaemia

95
Q

What cells are evident in microangiopathic haemolytic anaemia?

A

Schistocytes

96
Q

What cells are associated with G6PD deficiency?

A

Heinz cells

97
Q

What are the features associated of extravascular haemolysis?

A

Splenic hypertrophy and splenomegaly

98
Q

What are the features of intravascular haemolysis?

A

Increased plasma Hb
Methaemalbuminaemia
Decreased plasma haptoglobin

99
Q

What is G6PD?

A

Glucose-6-phosphate dehydrogenase deficiency is a form of haemolytic anaemia that results from an inability of red cells to generate glutathione.

100
Q

What is the inheritance pattern for G6PD ?

A

X-linked recessive

101
Q

What do Heinz bodies represent?

A

Lumps of denatured precipitated haemoglobin within red cells are a marker of oxidative damage

102
Q

What are the risk factors for developing G6PD?

A

Oxidative drugs
Broad means
Antimalarial drugs

103
Q

What is the presentation of G6PD?

A 
Jaundice
Pallor
Dark urine
Nausea
Gallstones are common
104
Q

What is the management of G6PD?

A

Supportive care + folic acid

Blood transfusion for severe anaemia (Haemoglobin)

105
Q

What is sideroblastic anaemia?

A

A condition where erythrocytes incompletely form haem resulting in iron deposits within the mitochondria - forming a ring around the nucleus called a ring sideroblast

106
Q

What is seen in sideroblastic anaemia?

A

Ring sideroblast

107
Q

What are the acquired causes for sideroblastic anaemia?

A

Myelodysplasia
Alcohol
Lead
Anti-tb - Isoniazid

108
Q

What do iron studies reveal in sideroblastic anaemia?

A

High ferritin
High iron
High transferrin saturation

109
Q

What bone marrow staining is seen in sideroblastic anaemia?

A

Prussian blue staining will show ringed sideroblasts

110
Q

What is the inheritance pattern for haemophillia?

A

X-linked recessive disorder

111
Q

What factor deficiency is associated with Haemophilia A?

A

Factor VIII

112
Q

what factor deficiency is associated with haemophilia B?

A

Factor IX

113
Q

What happens in haemophilia?

A

In haemophilia, there is a failure to generate fibrin to stabilise the platelet plug. Both factors 8 and 9 play a role in the intrinsic coagulation pathway.

114
Q

What is the hallmark feature of haemophilia?

A

Hemarthrosis- the spontaneous bleeding of the joints and msk bleeding.

115
Q

What should be avoided in haemophilia?

A

Intramuscular injections - can lead to extensive haematoma

116
Q

What is the presentation of haemophilia?

A

Spontaneous/recurrent bleeding in joints and muscles, excessive bleeding after surgery, dental procedures or trauma

Recurrent nasal bleeding and easy bruising

Bleeding into muscles - erythema, warmth, decreased range of motion
-High pressure can lead to nerve palsies and compartment syndrome

-Prolonged bleeding following heel prick

Mucocutaneous bleeding - Epistaxis, bleeding from the gums, and easy bruising

Haemarthrosis

Fatigue
Menorrhagia

117
Q

What does APTT reveal for haemophillia?

A

Prolonged APTT

118
Q

What are the investigations for haemophillia?

A

APTT

Plasma factor VIII and IX assay - decreased or absent factor 8 and 9 levels

119
Q

What is the first-line management for haemophilia?

A

Factor concentrate

120
Q

What is DIC?

A

Disseminated intravascular coagulation is an acquired disorder of the clotting cascade characterised by the activation of the coagulation cascade resulting in the formation of intravascular thrombi and depletion of platelets and coagulation factors

121
Q

What are the major triggers for DIC?

A

Major trauma
Organ destruction
Sepsis
severe infection

122
Q

What type of coagulopathy occurs in DIC?

A

The release of fibrin degradation products into circulation interferes with platelet aggregation and clot formation.
• Consumption coagulopathy – Depletion of platelets, fibrin, and coagulation factors – associated with thrombocytopenia and raised D-dimer.

123
Q

What are the obstetric complications of DIC?

A

Pre-eclampsia
Obstetric haemorrhage
Retained dead foetus
Amniotic embolic

124
Q

What is the presentation of DIC?

A

Systemic signs of circulatory collapse
-Oliguria, hypotension, tacycardia

-Confusion, Dyspnoea, evidence of bleeding

Examiantion

  • Petechiae, purpura, ecchymoses
  • Epistaxis
  • Mucosal bleeding
  • Overt haemorrhage
  • Signs of end-organ damage
  • Respiratory distress
  • Oliguria due to renal failure
125
Q

What blood investigations are consistent with DIC?

A

Reduced platelets
Reduced fibrinogen
Increased PT and APTT
Increased fibrinogen degradation products (D-dimer)

126
Q

What is the first-line management for DIC?

A

Fresh-frozen plasma - reduced clotting factors, consider cryoprecipitate, or fibrinogen concentrates as second-line

Platelet transfusion if platelet count <30,000

oxygen and fluids

127
Q

What is Von Willebrand Disease?

A

Von Willebrand disease is an inherited bleeding disorder (autosomal dominant), and characteristically behaves as a platelet disorder (Epistaxis and menorrhagia – Superficial bleeding).

128
Q

What is the inheritance pattern for Von Willebrand Disease?

A

Autosomal dominant

129
Q

What is VWF?

A

A multimeric glycoprotein that is synthesised by endothelial cells and megakaryocytes circulating in the plasma

-Mediates adhesion of platelets to the site of injury - promoting platelet-platelet aggregation by binding onto the glycoproteiin-1b receptor

130
Q

What are the three roles of VWF?

A

To bring platelets into contact with exposed sub-endothelium

To facilitate platelet-platelet aggregation

To bind to factor VIII and protect it from degradation

131
Q

What is type 1 VWD?

A

Partial quantitative deficiency

132
Q

What is type 2 VWD?

A

VWF with an abnormal function

133
Q

What is type 3 VWD?

A

Severe quantitative deficiency (Complete + Autosomal recessive).

134
Q

What is the presentation of VWD?

A 
Easy bruising (Ecchymosis)
Epistaxis (Prolonged >20 minutes)
Prolonged bleeding from gums
Menorrhagia

There is spontaneous mucosal and cutaneous bleeding

135
Q

In severe disease which clotting factor is deficiency in VWD?

A

Factor VIII

136
Q

What investigations are performed in VWD?

A

APTT is prolonged
PFA-100 test
Defective platelet aggregation with ristocetin

137
Q

What is the first-line management for VWD?

A

DDAVP (desmopressin)

138
Q

What is thalassemia?

A

Thalassemia is a group of genetic disorders characterised by reduced globin chain synthesis – There is under or no production of one globin chain.
• Unmatched globins precipitate  Damaging RBC membranes causing their haemolysis.
• Autosomal recessive

139
Q

What is the thallasemia trait?

A

Asymptomatic
Mild microcytic anaemia
Increased red cell count

140
Q

Explain the pattern of the iron studies in thalassemia?

A

Associated with an accumulation of iron - raised serum iron, ferritin and low TIBC

141
Q

What is the presentation of beta-thalassemia major?

A
  • Severe anaemia (Shortness of breath, fatigue, dizziness, malaise)
  • Presenting at 3-6 months: This is when the change from HbF to HbA takes place.
  • Failure to thrive- Growth retardation
  • Prone to infection
  • Abdominal distension due to hepato-splenomegaly
  • Large head with frontal and parietal bossing
  • Chipmunk facies
  • Mis-aligned teeth
  • Bone pain and fragility
  • Cardiac failure and arrhythmias – Secondary to anaemia and iron overload.
142
Q

What blood film findings are associated with beta-thalassemia?

A 
Hypochromic microcytic anaemia
Target cells
Howell-jolly bodies
Nucleated red cells
High reticulocyte count
143
Q

What is the diagnostic investigation of beta-thalassemia?

A

Hb electrophoresis

  • Absent or reduced HbA
  • High HbF
144
Q

What does a skull X-ray reveal in beta-thalassemia?

A

Hair on end appearance - caused by expansion of marrow into the cortex

145
Q

What is the management of beta-thalassemia major?

A

Regular transfusion

Iron monitoring and chelation (desferrioxamine) to reduce iron overload toxicity

146
Q

What is the inheritance pattern of SCA?

A

The autosomal recessive single-gene defect

147
Q

What is the pathophysiology of sickle cell anaemia?

A

In the deoxygenated state  HbS undergoes polymerisation – sickle shape = Fragile shape and haemolyse.
• The abnormal shape of erythrocytes induces microcirculation clotting – precipitating as a vaso-occlusive crisis leading to ischaemic of vital organs and pain.
• Sequestration and destruction (Reduced red cell survival ~ 20 days)
• Occlusion of small blood vessels causes hypoxia, which leads to further sickling.

148
Q

Which factors promote sickling in sickle cell disease?

A

Infection
Dehydration
Hypoxia
Acidosis

149
Q

What are the symptoms of sickle cell?

A

Auto-splenectomy (Splenic atrophy or infarction)
Sickle cells sequester within the spleen, undergoing reticular endothelial phagocytosis  Extravascular haemolysis.
• Splenic congestion arises + splenomegaly
• Compensated spleen reduces the immune function and individuals are more prone to bacteriaemia.

Abdominal pain due to mesenteric ischaemia

Bones
• Painful crises affect small bones of the hands and feet causing dactylitis in children.
• Affect the ribs, spine, pelvis, and long bones in adults
• Avascular necrosis

Myalgia and arthralgia

Leg ulcers

Low flow priapism

CNS
• Fits, and strokes + cognitive defects

Sequestration crisis
Sequestration crises occur because of multi-organ erythrocyte pooling (predominantly the spleen) – affects children as the spleen has not undergone atrophy.
•	Liver – Exacerbation of anaemia 
•	Lungs – Acute chest syndrome  
-	Breathlessness 
-	Cough
-	Pain
-	Fever

Corpora cavernosa
• Persistent painful erection (priapism)
• Impotence

Symptoms of aplastic anaemia
• Due to parvovirus B19 with a sudden reduction in marrow production, especially RBCs.

150
Q

What are the examination findings associated with sickle cell?

A
  • Bone: Joint or muscle tenderness or swelling (Avascular necrosis)
  • Short digits – Due to infarction in small bones of the hands
  • Retina- Cotton wool spots due to retinal ischaemia
151
Q

What blood smear findings are associated with functional hyposplenism?

A

Howell-Jolly bodies

152
Q

What investigations diagnose SCA?

A

Haemoglobin electrophoresis - HbS, absence of HbA

High HbF

153
Q

What is the management of an acute sickle cell crisis?

A 
Oxygen
IV fluids
Strong analgesia
ABx
Cross-match blood
Transfusion
154
Q

What infection prophylaxis is administered for sickle cell?

A

Penicillin V

Regular vaccinations

155
Q

What is the management of chronic sickle cell disease?

A
  • Hydroxycarbamide/Hydroxyurea – If frequent crises  Increase foetal haemoglobin concentrations.
  • Reduces the frequency and duration of sickle cell crisis.
156
Q

What is the curative management of sickle cell disease?

A

Bone marrow transplantation

157
Q

What is a complication of sickle cell disease secondary to parvovirus b19?

A

Aplastic crisis

158
Q

What is polycythaemia?

A

Characterised by an increase in haemoglobin concentration (haematocrit) beyond the upper limit of normal

159
Q

What is relative polycythaemia?

A

Normal red cell mass, low plasma volume. There is a falsely elevated haemoglobin concentration.

  • Excessive diuretic use
  • Dehydration
160
Q

What is primary polycythaemia?

A

Excess erythrocytosis independent of erythropoietin (EPO).

161
Q

What is secondary polycythaemia?

A

Excess red blood cell production driven by excess EPO (Secondary to an appropriate rise in EPO – Chronic hypoxia (COPD, high altitude) or para-neoplastic (inappropriate secretion).

162
Q

What is the pathophysiology of polycythaemia rubra vera?

A
  • Characterised by clonal proliferation of myeloid cells
  • Varied morphologic maturity and haemopoietic efficiency
  • Mutations in JAK2 tyrosine kinase are involved.
163
Q

What are the causes of secondary polycythaemia vera?

A

Increase in EPO production
Appropriate increase
-Due to chronic hypoxia (Chronic lung disease, living at high altitude)

Inappropriate increase

  • Renal (Carcinoma, cysts, hydronephrosis)
  • Hepatocellular carcinoma
  • Fibroids
  • Cerebellar haemangioblastoma
164
Q

What is the presentation of polycythaemia vera?

A 
Headaches
Dyspnoea
Tinnitus
Blurred vision
Pruritus
Erythromelalgia
Night sweats
Thrombosis
Pain from peptic ulcder disease
Angina
Gout
165
Q

What examination findings are associated with polycythaemia vera?

A
  • Plethoric complexion (red).
  • Scratch marks from itching.
  • Conjunctival suffusion (redness of the conjunctiva).
  • Retinal venous engorgement
  • Hypertension
  • Splenomegaly
  • Signs of underlying aetiology
166
Q

What investigations are done in polycythaemia vera?

A

FBC
• High Hb
• High haematocrit
• Low MCV

Isotope Dilution Techniques
• Allows confirmation of plasma volume and red cell mass
• Distinguishes between relative and absolute polycythaemia

Polycythaemia Rubra Vera
•	High Hb, RCC, HCT, PCV
•	High WCC
•	High platelets
•	Low serum EPO
•	JAK2 mutation
•	Bone marrow trephine and biopsy  erythroid hyperplasia and raised megakaryocytes.

Secondary Polycythaemia
• High serum EPO
• Exclude chronic lung disease/hypoxia
• Identify for EPO-secreting tumours

167
Q

What is the management for polycythaemia?

A

Address factors that may lead to reduced plasma volume – Smoking, alcohol consumption, obesity and hypertension (Relative).

Secondary:
• Phlebotomy
• Low dose aspirin

Cytoreductive therapy – Hydrocarbamide

168
Q

What is Hodgkin’s lymphoma?

A

A malignant proliferation of lymphocytes originating from the lymph nods or lymphoid tissues

169
Q

Where does Hodgkin’s lymphoma arise from?

A

Lymph nodes and lymphoid tissues

170
Q

What cells are characteristic of Hodgkin’s lymphoma?

A

Reed-Sternberg cells

171
Q

What are the risk factors for Hodgkin’s lymphoma?

A 
Affected sibling
EBV
SLE
Post-transplantation
Westernisation
Obese
172
Q

What is the epidemiology of Hodgkin’s lymphoma?

A
  • Bimodal age distribution with peaks at 20-30 years and >50 years.
  • Males (2:1)
173
Q

What is the presentation of Hodgkin’s lymphoma?

A

Lymphadenopathy- Enlarged, painless, non-tender, superficial.
• Cervical and supraclavicular nodal chain.
• Mass becomes painful after alcohol ingestion
• Mediastinal lymph node involvement can cause mass effects e.g., bronchial/SVC obstruction.

B symptoms of Lymphoma (Systemic)
• Fever >38 degrees – Cyclical = Pel-Ebstein fever
• Night sweats
• Weight loss > 10% body weight in the past 6 months.

Other symptoms
• Pruritus
• Cough
• Dyspnoea

174
Q

What type of lymphadenopathy is associated with Hodgkin’s lymphoma?

A

Enlarged, painless, non-tender and superficial

Cervical and supraclavicular node chain

175
Q

What are the B-cell symptoms of lymphoma?

A

Fever >38 degrees, cyclical

Night sweats

Weight loss

176
Q

What are the blood test results for Hodgkin’s lymphoma?

A 
High WCC
Leucocytosis
High neutrophils
High eosinophils
Lymphopenia in advanced disease
Raised ESR CRP LDH
177
Q

What is the diagnostic investigation for Hodgkin’s lymphoma?

A

Lymph node biopsy revealing Reed-Sternberg cells

178
Q

What is the definitive management for Hodgkin’s lymphoma?

A

Chemotherapy - doxorubicin, bleomycin, vinblastine

179
Q

What is non-Hodgkin’s lymphoma?

A

Malignancies of lymphoid cells originating in the lymphoid tissues
-Does not include Reed-Sternberg cells

180
Q

What is the most common type of non-Hodgkin’s lymphoma?

A

B-Cell derived

-Aggressive and associated with HepC

181
Q

What is the presentation of non-Hodgkin’s lymphoma?

A

• Painless enlarging mass in the neck, axilla, or groin – superficial lymphadenopathy.

Systemic symptoms 
•	Fever
•	Night sweats
•	Weight loss >10% body weight 
•	Symptoms of hypercalcaemia 
Symptoms related to organ involvement 
•	Extranodal disease is more common in NHL 
•	Skin rashes
•	Headache
•	Sore throat
•	Abdominal discomfort 
•	Testicular swelling
182
Q

What skin rash is associated with non-Hodgkin’s lymphoma?

A

Mycosis fungoides

183
Q

What is acute myeloid leukaemia?

A

Acute myeloid leukaemia is characterised as a malignancy of primitive myeloid lineage white blood cells (myeloblasts) with proliferation in the bone marrow and blood

184
Q

What is myelodysplastic syndrome?

A

Defective maturation of myeloid cells, and an accumulation of blasts.
• Blast % increases with disease progression.

185
Q

What are the acute promyelocytic features of AML?

A

Auer rods

Blasts

186
Q

What are the risk factors for AML?

A
  • Ionising Radiation, MPD/MPS, cancer therapy (alkylating agents), chemotherapy.
  • Down’s syndrome (Chromosome 21)
187
Q

What is the aetiology of AML?

A

Myeloblasts undergo malignant transformation and proliferation.
• Replacement of normal marrow and bone marrow failure.
• Mutation of transcription factors.

188
Q

What is the presentation of AML?

A
  • Anaemia (Lethargy, dyspnoea, pallor)
  • Bleeding (Due to thrombocytopenia)
  • Opportunistic or recurrent infections (Neutropenia)
  • Bone pain
  • Splenomegaly
189
Q

What does an FBC reveal in AML?

A
  • Low Hb, low platelets, variable WCC
  • High uric acid
  • High LDH
  • Clotting studies: Fibrinogen, and D-dimers (identify for DIC)
190
Q

What does a blood film reveal in AML?

A
  • Myeloblasts
  • Auer rods
  • Bilobed nucleus/indented nucleus
191
Q

What is the first-line management of AML?

A

Induction chemotherapy

  • Cyarabine
  • Idarubicin
192
Q

What is the definitive management for AML?

A

Stem-cell and bone marrow transplant

193
Q

What is the most common leukaemia in children?

A

Acute lymphocytic leukaemia

194
Q

What is ALL?

A

ALL is the most common malignancy affecting children and accounts for 80% of childhood leukaemia. A malignancy of the bone marrow is characterised by the proliferation of lymphoblasts (primitive lymphoid cells).
• Peak incidence is 2-5 years of age.

195
Q

What is the peak incidence of ALL?

A

2-5 Years

196
Q

Which cells are associated with ALL?

A

Lymphoblasts

197
Q

What is the prophylaxis for CNS complications in ALL?

A

Methotrexate

Phase1c Medicine (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions