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Year 3 MedEd > Haem1 > Flashcards

Haem1 Flashcards

Anaemia

1
Q

What are the two causes of raised Hb?

A

True polycythaemia

Pseudopolycythaemia

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2
Q

What is the normal pathway for erythrocytosis?

A

Tissue hypoxia
Raised EPO production from kidney
RBC production in bone marrow

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3
Q

What are the two types of true polycythaemia?

A

Primary (polycythaemia vera)

Secondary (high EPO)

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4
Q

What are the types of secondary polycythaemia?

A

COPD
Renal cell carcinoma
High altitude
Smoker

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5
Q

What is polycythaemia vera?

A

Clonal haematopoietic disorder of bone marrow resulting in erythrocytosis
May be associated with thrombocytosis, leukocytosis, and splenomegaly

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6
Q

What is the genetic link with PCV?

A

85% are related to a JAK2 V617F mutation

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7
Q

What are the symptoms of PCV?

A 
Asymptomatic
Headache
Aquagenic pruritus
Blurred vision
Tinnitus
Thrombosis
Gangrene
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8
Q

What are the signs of PCV?

A

Choreiform movements
Hepatosplenomegaly
Red face, fingers, palms, toes, heels

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9
Q

What are the investigations for PCV?

A

FBC- raised Hb, Hct, WCC, platelets

Gene mutation screen for JAK2 V617F

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10
Q

What is anaemia?

A

Reduction in Hb, red cell count, and packed cell volume below reference age and sex

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11
Q

What are the symptoms of anaemia?

A 
Asymptomatic
Fatigue
Faintness
Dyspnoea
Angina pectoris
Intermittent claudication
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12
Q

What are the signs of anaemia?

A 
Pale skin
Pale mucous membranes
Tachycardia
Koilonychia
Cardiac failure
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13
Q

What are the three types of anaemia and what are the MCV levels that distinguishes them?

A

Microcytic (<80)
Normocytic (80-96)
Macrocytic (>96)

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14
Q

What are the causes of microcytic anaemia?

A

Iron deficiency anaemia (IDA)
Thalassaemia
Anaemia of chronic disease
Sideroblastic anaemia

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15
Q

What are the causes of IDA?

A 
Blood loss (commonly uterus, GI tract)
Increased demand (pregnancy/growth)
Decreased absorption (SI disease, post-gastrectomy)
Poor intake (vegans)
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16
Q

What are the investigations for IDA?

A 
FBC- low Hb, MCv
Iron studies:
-low serum iron
-low ferritin
-high transferrin
-low transferrin saturation
Blood film:
-microcytic, hypochromic RBCs with anisocytosis and poikilocytosis
Upper GI endoscopy + colonoscopy
Coeliac serology (IgA TTG antibodies)
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17
Q

What is the management for IDA?

A

Treat underlying cause
Oral Fe
IV/IM Fe if poor tolerance/uptake

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18
Q

What can cause ACD?

A

Chronic inflammation (RhA)
Chronic infection (TB)
Chronic malignancy
No other obvious cause of anaemia

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19
Q

What is the cause of ACD?

A 
Cytokine release
Blocks EPO production
Blocks Fe flow out of cells
Increased intracellular Fe storage
Increased RBC turnover
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20
Q

What are the investigations for ACD?

A 
Raised ESR/CRP
FBC- low Hb, low/normal MCV
Iron studies:
-low serum iron
-high/normal ferritin (acute phase protein)
-low/normal transferrin
-normal transferrin sat
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21
Q

What is normal haemoglobin made of?

A

2 alpha chains

2 beta chains

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22
Q

What are the two main types of thalassaemia?

A

Alpha thalassaemia

Beta thalassaemia

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23
Q

How many genes code the alpha Hb chain?

A

4 genes, 2 from each parent

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24
Q

What are the types of alpha thalassaemia?

A

Alpha thalassaemia silent (1 absent gene)
Alpha thalassaemia trait (2 absent genes)
Haemoglobin H (3 absent genes)
Haemoglobin Barts (4 absent genes)

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25
Q

What are the characteristics of alpha thalassaemia silent?

A

No clinical symptoms

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26
Q

What are the characteristics of alpha thalassaemia trait?

A

Low MCv + MCH
Can be confused with IDA
Hb electrophoresis shows low/normal HbA2

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27
Q

What are the characteristics of haemoglobin H?

A 
Microcytic hypochromic anaemia
Target cells and Heinz bodies
Hepatosplenomegaly
Presents in childhood/early adulthood
Needs lifelong transfusions
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28
Q

What are the characteristics of haemoglobin Barts?

A

Often fatal in utero unless intrauterine transfusions

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29
Q

What are the types of beta thalassaemia?

A

Beta thalassaemia minor
Beta thalassaemia trait
Beta thalassaemia major

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30
Q

What are the characteristics of beta thalassaemia minor?

A

Asymptomatic heterozygous carrier
Mild/absent anaemia
Normal ferritin
Electrophoresis shows increased HbA2

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31
Q

What are the characteristics of beta thalassaemia trait?

A

Combination of homozygous beta and alpha thalassaemias
Moderate anaemia that doesn’t require transfusions
Splenomegaly, gallstones, bone deformities, recurrent leg ulcers

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32
Q

What are the characteristics of beta thalassaemia major?

A

Presents at 2-3 months with profound anaemia, failure to thrive, recurrent infections
Bony abnormalities due to bone marrow hypertrophy
Extramedullary haematopoiesis
Electrophoresis shows HbF and reduced/absent HbA

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33
Q

What are the investigations for thalassaemia trait?

A 
FBC- low Hb, MCV
Iron studies:
-normal serum iron
-normal ferritin
-normal transferrin
-normal transferrin saturation
Hb electophoresis
-alpha trait: low/normal HbA2
-beta trait: high HbA2
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34
Q

What is the management for severe thalassaemia?

A 
Blood transfusions
Iron chelators
Bone marrow transplant:
-only curative treatment
-causes infertility
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35
Q

What are the types of macrocytic anaemia?

A

Megaloblastic

Normoblastic

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36
Q

What is a megaloblast?

A

developing RBCs in the bone marrow with a delayed nuclear maturation relative to their cytoplasm

37
Q

What are the causes of megaloblastic macrocytic anaemia?

A

Vit B12 deficiency

Folate deficiency

38
Q

What are the causes of normoblastic macrocytic anaemia?

A 
Pregnancy
Alcohol excess
Reticulocytosis
Liver disease
Hypothyroidism
Haematological disorders (eg. aplastic anaemia)
Drugs (eg. hydroxycarbamide)
39
Q

What are the causes of Vit B12 deficiency?

A

Low intake (eg. vegans)
Impaired absorption:
Stomach: pernicious anaemia, gastrectomy
Small bowel: Crohn’s, coeliac, tropical sprue

40
Q

What is pernicious anaemia?

A

Autoimmune condition of atrophic gastritis and the destruction of parietal cells
Lack of intrinsic factor, which is needed for B12 absorption

41
Q

What are the symptoms of B12 deficiency?

A 
Progressive anaemia
Weight loss
Change in bowel habits
Muscle weakness
Symmetrical paraesthesia
Visual impairment
Memory disturbance
42
Q

What are the signs of B12 deficiency?

A 
Progressive anaemia
Jaundice (ineffective erythropoiesis- RBC precursor breakdown)
Glossitis
Angular stomatitis
Polyneuropathy
43
Q

What are the investigations for B12 deficiency?

A

FBC and film:
-low Hb, high MCV, low reticulocytes, hypersegmented neutrophils
Serum vit B12- low
Serum autoantibodies: 90% parietal cells, 50% IF

44
Q

What is the management for B12 deficiency?

A

IM hydroxycobalamin or oral cyanocobalamin

45
Q

What are the causes of folate deficiency?

A 
Poor intake
-elderly, poverty, alcohol XS, eating disorders
Malabsorption
-Coeliac, Crohn's, tropical sprue
XS utilisation
-pregnancy, adolescence, prematurity, haemolytic anaemia, malignancy, inflammatory diseases
Drugs
-methotrexate, phenytoin
46
Q

What are the investigations for folate deficiency?

A 
FBC and film
-low HB, high MCV, low reticulocyte, hypersegmented neutrophils
Serum folate
-low
Red cell folate (diagnostic)
-low
47
Q

What is the management for folate deficiency?

A

Treat underlying cause

Folic acid replacement

48
Q

What are the causes of normocytic anaemia?

A 
Acute blood loss
Anaemia of chronic disease
Combined microcytic and macrocytic e.g. iron and folate deficiency
Marrow infiltration/fibrosis
Endocrine disease
Haemolytic anaemia
49
Q

What is myelofibrosis?

A

A disorder of haematopoietic stem cells and progressive marrow fibrosis

50
Q

What are the clinical features of myelofibrosis?

A

Insidious onset
-FLAWS
Splenomegaly
Hepatomegaly (extramedullary haematopoiesis)

51
Q

What are the investigations for myelofibrosis?

A

FBC- anaemia
Peripheral blood smear:
-leukoerythroblastic change
-characteristic “tear drop” poikilocyte red cells
Bone marrow aspiration- dry tap
Bone marrow biopsy- hypocellular marrow fibrosis
50% primary MF have JAK2

52
Q

What are the hereditary causes of haemolytic anaemia?

A 
Membrane defects
-hereditary spherocytosis
-hereditary elliptocytosis
Metabolic defects
-G6PD deficiency
-pyruvate kinase deficiency
Haemoglobinopathies
-thalassaemia
-sickle cell disease
53
Q

What are the acquired causes of haemolytic anaemia?

A 
Autoimmune
Non-autoimmune:
-drugs
-infx
-hypersplenism
-paroxysmal nocturnal haemoglobinuria
-microangiopathic haemolytic anaemia
--haemolytic uraemic syndrome
--thrombocytopenic purpura
--disseminated intravascular coagulation
54
Q

What are the clinical features of haemolytic anaemia?

A 
Same as anaemia
Splenomegaly
Increased RBC production and reticulocytes
Bone marrow erythroid hyperplasia
Polychromatic cells on blood film
Low serum folate
Increased serum bilirubin
Increased risk of iron overload and osteoporosis
55
Q

What is an aplastic crisis?

A 
Temporary suspense of RBC production
Parvovirus B19 susceptibility
Virus arrests the maturation of erythroid cells in bone marrow for ~10 days
Sudden drop in Hb
Low/absent reticulocyte count
56
Q

What is hereditary spherocytosis?

A

Autosomal dominant condition
Commonest inherited haemolytic condition in Northern Europe
Defect in membrane causes cell to become spherical, hence gets destroyed in the spleen

57
Q

What are the clinical features of hereditary spherocytosis?

A

Can be asymptomatic

Anaemia, jaundice, splenomegaly

58
Q

What are the investigations for hereditary spherocytosis?

A

FBC- anaemia, reticulocytosis
Blood film- spherocytes
Coomb’s test- negative

59
Q

What is Coomb’s test assessing?

A

If your blood contains auto-antibodies for RBCs

60
Q

What are the triggers for G6PD deficiency?

A 
Fava beans
Moth balls
Infections
Drugs eg. quinine, sulphonamide, nitrofurantoin
-anti-malaria drugs
61
Q

What are the investigations for G6PD deficiency?

A

Peripheral blood smear- Heinz bodies

Direct measure of enzyme levels in red cells

62
Q

What is sickle cell anaemia?

A

Autosomal recessive condition where both alleles create HbS

Deoxygenated HbS is insoluble and polymerises

63
Q

What are the causes of sickling?

A

Hypoxia
Dehydration
Infection
Cold

64
Q

What are the consequences of sickling?

A

Haemolysis

Vaso-occlusion -> tissue ischaemia

65
Q

What are the symptoms of sickle cell anaemia?

A 
6-8g/dL with reticulocytosis
Can be asymptomatic
Sequestration crisis:
-stroke/TIA
-lung: acute chest syndrome
-spleen: rapid splenomegaly with fall in Hb
-corpus cavernosa: priapism, impotence
Vaso-occlusion:
-dactlyitis
-bone pain of long bones, ribs, spine, pelvis
-avascular necrosis of bone marrow
Bone marrow aplasia (parvovirus B19)
Gallstones from chronic haemolysis
66
Q

What is acute chest syndrome?

A

SOB
Cough
Fever
Due to sickle cell sequestration crisis

67
Q

What are the investigations for sickle cell anaemia?

A 
Diagnosed at birth with heel prick test
FBC- low Hb, high reticulocyte
Peripheral blood film:
-sickle cells
-target cells and Howell-Jolly bodies if hyposplenic
Hb electrophoresis- HbS, no HbA
68
Q

What is the management for sickle cell anaemia?

A

Avoid precipitating factors
Folic acid
Pneumococcal/influenza vaccination
Acute painful crisis- analgesics, oxygen, fluid, ABx
Blood transfusions if severe symptoms occur
Recurrent painful crisis- hydroxycarbamide
Splenectomy/cholecystectomy if severe
Bone marrow transplant is curative

69
Q

What are the complications of sickle cell anaemia?

A 
Swollen joints
Sickle chest syndrome/pneumonia
Bowel ischaemia
Splenic/hepatic sequestration
Cholecystitis
Arrhythmia
Priapism
70
Q

What is autoimmune haemolytic anaemia?

A

Autoimmune destruction of RBCs

Diagnosed via Coomb’s test/direct antiglobulin test (DAT)

71
Q

What are warm antibodies?

A

IgG that attaches to RBC at 37 degrees

Idiopathic/associated with autoimmune conditions, lymphomas, CLL, carcinomas

72
Q

What are cold antibodies?

A

IgM that attaches to RBC below 37 degrees

Idiopathic/associated with infections (e.g. mycoplasma spp, EBV etc), lymphomas, paroxysmal cold

73
Q

What is microangiopathic haemolytic anaemia?

A

Damage to endothelial surface results in fibrin strand deposition and platelet aggregation in small vessels
Red cells are fragmented as they pass causing intravascular haemolysis

74
Q

What are the investigations for microangiopathic haemolytic anaemia?

A

Blood count and film: reticulocytosis, schistocytes

75
Q

What is haemolytic uraemic syndrome?

A

Triad of:

  • MAHA
  • AKI
  • thrombocytopenia
76
Q

What are the causes of HUS?

A

Infection- shiga toxin of E. coli 0157 (Pt has diarrhoea), non E. coli related (no diarrhoea)
Drug- OCP, cyclosporin
Other- pregnancy, SLE

77
Q

What are the clinical features of HUS?

A 
Pallor (anaemia)
Jaundice (haemolysis)
Bruising (thrombocytopenia)
Oligo/anuria (AKI)
Haematuria (AKI)
Oedema
Hypertension
Fever
Fatique
Abdo pain
78
Q

What are the investigations for HUS?

A

FBC and film: normocytic anaemia, thrombocytopenia, reticulocytosis, schistocytes
U+E: raised creatinine
PT + APTT: normal
Renal biopsy

79
Q

What is thrombotic thrombocytopenic purpura?

A

Pentad of:

  • MAHA
  • AKI
  • thrombocytopenic purpura
  • fever
  • neurological dysfunction
80
Q

What are the causes of TTP?

A

Deficiency of ADAMTS-13:

-secondary to AI process (eg. SLE), drugs, pregnancy, infection

81
Q

What are the clinical features of TTP?

A

Same as HUS
Fever
Florid purpura
Fluctuating cerebral dysfunction (headaches, confusion, seizures, coma)

82
Q

What are the investigations for TTP?

A 
Same as HUS
FBC and film: normocytic anaemia, thrombocytopenia, reticulocytosis, schistocytes
U+E: raised creatinine
PT + APTT: normal
Renal biopsy
83
Q

A 60 year old man presents with lethargy to the GP. A full blood count and smear is requested. The following is found:
Hb: 10 g/dl (13.5-18.0)
Platelets: 310 (150-400)
WBC: 14 (4-11)

Film: Leucoerythroblastic picture with tear-drop poikilocytes seen

What is the most likely diagnosis:

A. Iron deficiency anaemia
B. Myelofibrosis
C. Chronic myeloid leukaemia
D. Haemolytic anaemia
E. Myelodysplasia
A

B. Myelofibrosis

84
Q

A 55 year old lady presents to the GP with long standing pain in her hands. On examination there are gross deformities of her fingers and joint swelling.

FBC reveals
Hb: 7.3 (11.5-16.0)
MCV: 94 (82-100)
WCC: 7 (4-11)

What is the most likely cause of the blood results?

A. Thalassaemia
B. Iron deficiency anaemia
C. Vitamin B12 deficiency
D. Anaemia of chronic disease
E. Sideroblastic anaemia
A

D. Anaemia of chronic disease

85
Q

A 21 year old female presents with chronic fatigue and tiredness. On further questioning she reveals a longstanding history of heavy periods. On examination you notice pale conjunctivae.

What is the most likely cause of her symptoms:

A. Alcohol excess
B. Iron deficiency anaemia
C. Folate deficiency
D. Thalassaemia
E. Vitamin B12 deficiency
A

B. Iron deficiency anaemia

86
Q

A 35 year old man presents to his GP with worsening fatigue over the past few months. He mentions that his stools have been darkening recently and he’s been having recurrent pins and needles in his hands. His has a history of Crohn’s disease which is managed with azathioprine but has had several flares this year which required hospital admission. A full blood count shows the following:

Hb: 10 (13.5-18.0)
MCV: 124 (84-100)
Platelet: 240 (150-400)

What is the most likely diagnosis:

A. Vitamin B12 deficiency
B. Anaemia of chronic disease
C. Alcohol excess
D. Iron deficiency anaemia
E. Haemolytic anaemia
A

A. Vitamin B12 deficiency

87
Q

A 7 year old male with known sickle cell disease present to A+E with a cough and mild pain in his back for the last 2 days. He has already tried paracetamol and ibuprofen. On examination he has a blood pressure of 94/62 mmHg, heart rate of 110 bpm, respiratory rate of 30/min and a temperature of 38.4 degrees. There is no obvious source of infection.

What is the most appropriate next step?
A. Prescribe oramorph and review tomorrow
B. Prescribe daily codeine and ask GP to review in a week
C. Chest x-ray and dipstick urine (give antibiotics if +ve)
D. Admit urgently
E. Full blood count and review tomorrow

A

D. Admit urgently

Acute chest syndrome
SOB, fever, cough

88
Q

A 22 year old female presents with lethargy. The following blood results are obtained:

Hb: 10.6 (11.5-16)
Platelets: 300 (150-400)
WCC: 5.5 (4-11)
MCV: 65 (84-100)
HbA2: 4.5% (<3%)

What is the most likely diagnosis?

A. Beta-thalassaemia major
B. Sickle cell anaemia
C. Hereditary spherocytosis
D. Beta-thalassaemia trait
E. Iron deficiency anaemia
A

D. Beta-thalassaemia trait

Signs similar to IDA with raised HbA2

Year 3 MedEd (29 decks)

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