Haematology pathology Flashcards

1
Q

what determines each blood group ? two main types of grouping ?

A

depending on surface antigens on RBCs
- ABO grouping
- rhesus grouping

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2
Q

name the RBC antigens and antibodies someone in blood group A would have ?

A
  • A antigen (on RBC)
  • anti B (antibodies in plasma)
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3
Q

name the RBC antigens and antibodies someone in blood group B would have ?

A
  • B antigen (on RBC)
  • anti A (antibodies in plasma)
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4
Q

name the RBC antigens and antibodies someone in blood group AB would have ?

A
  • A and B antigens on RBC
  • no antibodies in plasma
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5
Q

name the RBC antigens and antibodies someone in blood group O would have ?

A
  • no surface antigens
  • Anti A and Anti B (in plamsa)
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6
Q

what blood group is the urinersal donor ?

A

O-

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7
Q

what blood group is universal recipient ?

A

AB+

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8
Q

what does Rhesus +ve mean ? what blood can they recieve ?

A

have the Rh D antigen and can receive both Rh +ve and -ve blood

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9
Q

what does Rhesus -ve mean ? what blood can they recieve ?

A

lack Rh antigen so should only receive Rh -ve blood

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10
Q

what are the 2 pathways of the coagulation process ? what links them ?

A
  • extrinsic pathway (triggered by external trauma which causes blood to escape circulation)
  • intrinsic (triggered by internal damage to vessels)
  • united to form common pathway
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11
Q

activation of which factor signals the start of the common pathway of coagulation ?

A

X

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12
Q

where does Fe absorption occur ? by what transporter ?

A

occurs in duodenum and upper jejunum by DMT1 transporter

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13
Q

what is the main regulatory hormone of fe ?

A

hepcidin

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14
Q

what is erythropoiesis ? occurs where ?

A

it is the process by which RBCs are made (erythrocytes)
- in adults this occurs in the box marrow of some bones

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15
Q

what are normoblasts ? where are they present ? what do they become ?

A

normoblasts (present in bone marrow only) => los their nucleus as they mature to reticulocytes (immature RBC) => los remaining organelles as mature to erythrocytes

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16
Q

what stimulates increase in erythropoiesis ?

A

driven by erythropoietin (EPO) - secreted by kidney
- when interstitial peritubular cells detect decrease PaO2 => increase EPO => act on bone marrow

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17
Q

what does high reticulate count indicate ?

A

increased RBC turnover (increase erythopoesis)
- haemolytic, haemorrhage

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18
Q

what is thrombin also known as ?

A

factor II

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19
Q

what is the action of clopidogrel ?

A

prevents ADP binding to its platelet receptor

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20
Q

what does blasts on peripheral blood film indicate ?

A

indicate myelofibrosis + leukaemia

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21
Q

what pathway does Prothrombin time test ? what factors ?

A

tests extrinsic system
- test for abnormailites in I, II, V, VII, X

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22
Q

what could cause a prolonged PT ? (4)

A
  • warfarin
  • Vit K deficiency
  • liver disease
  • DIC
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23
Q

what pathway does active partial thromboplastin time test ? what factors ?

A

APPT test intrinsic system
- test for abnormailites with I, II, V, VIII, IX, X, XI, XII

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24
Q

what could cause a prolonged APTT ?

A
  • heparin treatment
  • haemophilia
  • DIC
  • liver disease
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25
Q

what do you give in unfractioned heparin overdose ?

A

protamine sulphate counteracts UFH

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26
Q

what is the cut off for aneamia in men and women ?

A

<135 g/l in men
<115 g/l in women

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27
Q

what is anaemia ?

A

low level of haemoglobin as a result of underlying disease
- if low Hb found on FBC then check for MCV

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28
Q

what are the categories of causes of anaemia ? (pathophys)

A
  • increase RBC loss (bleeding)
  • increased RBC destruction (haemolytic)
  • reduced RBC production (iron, folate or B12 deficiency, bone marrow failure)
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29
Q

causes of microcytic anaemia ? most common ?

A

TAILS
- thalassaemia
- Anaemia of chronic disease
- IDA (most common)
- Lead poisoning
- sideroblastic anaemia

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30
Q

causes of normocytic anaemia ?

A

AAAHH
- Acute blood loss
- Anaemia of chronic disease
- Aplastic anaemia
- Haemolytic anaemia
- Hypothyroidism

(pregnancy)

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31
Q

causes of microcytic anaemia ? (6)

A
  • B12 deficiency
  • folate deficiency
  • alcohol
  • reticulocytosis
  • hypothyroidism
  • liver disease
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32
Q

anaemia sx ? some specific to IDA ?

A
  • tiredness, sob, headaches, dizziness, palpitations
  • IDA: pica, hair loss
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33
Q

what is haemltocrit ?

A

measurement of the proportion of blood which is made up of cells

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34
Q

describe the transferrin in IDA ?

A

if iron deficient => increase transferring (less iron so not enough to occupy)

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35
Q

patient has low folate, what do you check ?

A

do no replace folate (B9) without checking B12
- because folate can mask B12 deficiency sx)

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36
Q

causes of anaemia of chronic disease ?

A

many: chronic infection, vasculitis, RA, malignancy, renal failure

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37
Q

patient has microcytic anaemia not responding to iron. what should you be thinking ?

A

sideroblastic anaemia
- ineffective erythropoiesis => increase iron absorption + iron loading in marrow => iron deposition in organs

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38
Q

what are some of the causes of IDA ? (4)

A
  • reduced iron intake
  • increased iron loss (bleeding, blood donation, menorrhagia)
  • increase iron requirement (growth)
  • impaired iron absorption (coeliac)
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39
Q

IDA signs ?

A
  • koilonycia (spoon shpaed nails)
  • atrophic flossitis
  • angular cheilosis
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40
Q

IDA: describe these levels
- Serum iron
- TIBC
- transferrin
- serum ferritin

A
  • low Serum iron
  • high TIBC
  • low transferrin
  • low serum ferritin
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41
Q

IDA Mx ? for how long ?

A

diagnosis of IDA requires investigation of the underlying cause (coeliac serology)
- oral or IV iron replacement (ferrous sulphate)
- continue for at least 3 months after Hb normalises

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42
Q

what is aplastic anaemia ? describe a bit

A

(low RBC, WBC + platelets)
- condition where body stop producing enough new blood cells which leaves patient fatigued and prone to infections + uncontrolled bleeding
- (pancytopenia with hypo cellular marrow + no abornla cells or evidence of dysplasia)

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43
Q

aplastic anaemia aetiology ? (2)

A
  • usually idiopathic
  • occasionally drug exposure
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44
Q

aplastic anaemia Px ?

A
  • often presents with infections (due to leukopenia)
  • fatigue, dyspnoea, pallor, tachy (anaemia)
  • bleeding or bruising (thrombocytopenia)
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45
Q

aplastic anaemia Ix ?

A
  • FBC shows 2 or more cytopenias
  • low reticulocyte count (low shows hypoproductive anaemia)
  • bone marrow biopsy: hypo cellular marrow without abnormal cells
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46
Q

aplastic anaemia Mx ? (2)

A
  • immunosuppressive therapy
  • haematopoetic stem cell transplant
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47
Q

what is pernicious anaemia ? cause of what type of anaemia ?

A

it is a cause of vit B12 anaemia (macrocytic)

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48
Q

what can cause b12 deficiency anaemia ? (2)

A
  • insufficient dietary intake
  • pernicious anaemia
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49
Q

pernicious anaemia pathosphsy ?

A

autoimmune condition where antibodies form against parietal cells or intrinsic factor => lack of intrinsic factor => B12 remains unbound => proven B12 absorption in intestine => vit B12 deficient

50
Q

what is vit B12 needed for ?

A

to form RBC and DNC
- severe deficiency => severe neurological damage
-

51
Q

what does a deficient in B12 cause ? (4)

A
  • peripheral neuropathy with paraestxesia
  • loss of proprioception
  • visual changes
  • mood and cognitive changes
52
Q

what is intrinsic factor ? released from where ?

A

protein released by stomach
- binds to vit B12 so that it can be absorbed in intestine (terminal ileum)

53
Q

pernicious anaemia Ix ?

A

test for autoantibodies (intrinsic factor antibody)

54
Q

pernicious anaemia Mx ?

A

hydroxycobalamin

55
Q

what is haemolytic anaemia ?

A

a blood disorder that occurs when red blood cells are destroyed faster than the body can replace them

56
Q

name some hereditary haemolytic aneamia ?

A
  • RBC defect
  • enzyme deficieny
  • abrnomal Hb production
57
Q

name a RBC defect that causes haemolytic anaemia ?

A

hereditary spherocytosis

58
Q

name an enzyme deficient that causes anaemia ? what kind of anaemia ?

A

glucose-6-phsophate deficiency causes haemolytic anaemia

59
Q

name a condition where abnormal Hb production causes haemolytic anaemia ? (2)

A
  • sickle cell anaemia
  • thalssaemia
60
Q

what is hereditary spherocytosis ? what inheritance

A

(memebranopathy)
- it is where RBC are sphere speed => fragile + easily destroyed when passing through spleen
- autosomal dominant genetic condition

61
Q

hereditary spherocytosis px ?

A
  • jaundice
  • anaemia
  • gallstones
  • splenomegaly (spheres get trapped in spleen)
  • episodes of haemolytic crisis
62
Q

hereditary spherocytosis Ix ?

A
  • family history
  • clinical features
  • blood film (spherocytes)
  • high reticulocyte count
63
Q

hereditary spherocytosis mx ?

A

folate supplementation + penectomy
- transfusion during acute crisis

64
Q

what is hereditary elliptocytosis ? what inheritance ?

A

autosomal dominant causes elliptical RBC
- similar presentation as hereditary spherocytosis

65
Q

what is G6PD deficiency ? what inheritance ? where is G6PD found ?

A

it is where there is a defect in G6PD enzyme that normally found in all cells of body
- x linked recessive inheritance (usually affects males)

66
Q

G6PD complicaitons ? triggers ? (3)

A

causes crisis (rapid anaemia and jaundice)
- triggered by infections, medications, fava beans

67
Q

what is the role of G6PD in the body ?

A

it is responsible for protecting from damage form reactive oxygen species (ROS)
- particularly important in RBC
- so without G6PD => more vulnerable to ROS => RBC haemolysis

68
Q

G6PD deficiency presentation ?

A
  • anaemia
  • intermittent jaundice
  • gallstones
  • splenomegaly
69
Q

G6PD deficiency Dx ?

A

G6PD enzyme assay

70
Q

G6PD deficiency Mx ?

A

avoid triggers of acute haemolytic
- transfuse if severe

71
Q

what is the genotype for sickle cell anaemia ?

A

HbSS

72
Q

what is the genotyped for sickle cell trait ?

A

HbAS

73
Q

what is sickle cell anaemia ? what inheritance ?

A

caused by an autosomal recessive single gene defect in beta chain of haemoglobin leading to sickle cell haemoglobin (HbS) => rigid crescent RBC => vast occlusive crisis

74
Q

how do sickle cells cause complications ? how does it causes anaemia ?

A

sickle cells obstruct blood flow + adhere to vascular endothelium + small capillaries => pain, damage to major organs and increased vulnerability to infections
- the sickled cells re more prone to haemolytis => anaemia

75
Q

when is faetal haemoglobin usually replaced by adult ?

A

it is usually replaced by adult (at 6 weeks) but sickle cell aneamia patients have haemoglobin S => sickle shape

76
Q

what is the relation of SCA to malaria ?

A

one copy of gene (sickle cell trait) => reduce severity of malaria => selective advantage

77
Q

SCA px ?

A

parent with SCA
- persistent pain on skeleton/chest/abdomen
- dactylitit
- high temp
- visual flutes
- pallor
jaundice

78
Q

SCA Ix ? when usually present ?

A
  • usually detected in infant screening (unlikely to get to adulthood without diagnosis)
  • DNA based assays will show replace of both beta Hb subunits with HbS
79
Q

SCA general Mx ? what is curative ? what drug ?

A
  • avoid dehydration
  • ensure up to date vaccination
  • Abx prophylaxis
  • blood transfusion (if severe anaemia)
  • bone marrow transplant (curative)
  • hydroxycarbamide (if frequent crisis)
80
Q

sickle cell crisis Mx ?

A

can be mild to life threatening
- treat any infection
- keep patient warm
- hydration
- ANALGESIA
- penile aspiration (if priapsim)

81
Q

what is is acute chest syndrome and what is it associated with ? how does it present ?

A

medical emergency associated with SCA
- fever, pain, tachypnoea, wheeze and cough

82
Q

acute chest syndrome Mx ? (4)

A
  • Abx
  • blood transfusion (anaemia)
  • incentive spirometry
  • artificial ventilation
83
Q

complicaitons of SCA ?

A
  • anaemia
  • increases infection risk
  • stroke
  • avascular necrosis
  • pulmonary HTN
  • priapsim
  • sickle cell crisis
  • acute chest syndrome
84
Q

what infection can cause a particular bad outcome in SCA ?

A

aplastic crisis
- due to parvovirus B19 infection

85
Q

What is thalassaemia ?

A

it is a genetic condition that causes defects in the protein chain that make up haemoglobin
- overall effect is varying degrees of anaemia

86
Q

describe the different types of thalassaemia ? what inheritance ?

A

directs in alpha robin chains => alpha thalassaemia (same for beta)
- both autosomal recessive

87
Q

describe he RBC in thalassaemia ?

A

RBC are more fragile => breakdown more easily => spleen collects all destroyed RBC => splenomegaly

88
Q

what happens to the bone marrow in thalassaemia ?

A

boen marrow expand to produce extra RBC (compensate chronic anaemia) => susceptible to fractures + pronounced forehead

89
Q

thalassaemia signs and symptoms ? what MCV type of anaemia ?

A
  • microcytic anemia
  • fatigue
  • pallor
  • jaundice
  • gallstones
  • splenomegaly
  • poor growth and development
  • pronounced forehead (bossing due to extra medullary haematopoesis)
90
Q

thalassaemia Dx ?

A
  • FBC (microcytic anaemia)
  • haemoglobin electrophoresis (diagnose globin abnormalites)
  • DNA testing (genetic abnormality)
91
Q

alpha thalassaemia Mx ?

A
  • monitor FBC
  • monitor for complications
  • blood transfusions (to keep Hb > 90, may need life-long)
  • bone marrow transplant (curative)
92
Q

common complication of thalassaemia ?

A

iron overload: has similar effects as haemochromatosis
- consider iron chelators (deferiprone)
- avoid unnecessary iron supplementation

93
Q

beta thalassaemia sub types ?

A
  • thalassaemia minor: one abnormal + one normal gene (carrier state + usually asymptomatic)
  • thalassaemia intermedia: two abnormal copies (either 2 defective of 1 defective, 1 deletion)
  • thalassaemia major: homozygous for deletion gene (no function beta goblin genes)
94
Q

What is thrombocytopenia? caused by problems with what ?

A

it is low platelet count that can be caused by problems with production or destruction
- production (issue with bone marrow or megakaryoctyes): sepsis, B12 or folic acid deficiency, liver failure
- destruction: medications, alcohol, ITP, TTP

95
Q

thrombocytopenia px ? (9)

A
  • asymptomatic
  • easy or spontaneous bruising
  • prolonged bleeding times
  • GI bleeds
  • nosebleeds
  • bleeding gums
  • heavy periods
  • blood in the urine
  • petechiae
96
Q

what is ITP ?

A

thrombocytopenia
- autoimmune, antibodies attack platelets

97
Q

ITP mx ?

A
  • steroids (prednisolone)
  • IV immunoglobulins
  • rituximab
  • splenectomy (reduce destruction of platelets)
  • platelet transfusion
98
Q

what is TTP ? what does it cause

A

(thrombotic thrombocytopenia purpura)
- tiny blood clots develop throughout the small vessels of the body => uses up platelets => thrombocytopenia + bleeding under skin (purpura)

99
Q

TTP pathophys ? what causes it ?
what kind of anaemia does it cause ?

A

blood clots form due to problem with protein (ADAMTS13) which normally inactivates vwf and reduces platelet adhesion
- the blood clots also form a mesh which breaks up RBC => haemolytic anaemia

100
Q

TTP what seen on peripheral smear ?

A

microangiopathic haemolytic anaemia with fragmented RBC + thrombocytopenia

101
Q

TTP Mx ? prognosis without treatment ?

A
  • plasma exchange
  • steroids (prednisolone)
  • rituximab

95% of cases are fatal if left untreated

102
Q

haemophilia A and B. state what factor each is a deficiency in ? and what inheritance each is

A
  • A (deficiency in factor VIII)
  • B (deficiency in factor IX)
    both are x linked recessive
103
Q

haemophilia C. what factor affected ? what inheritance ?

A

factor XI
autosomal recessive

104
Q

signs and symptoms of haemophilia a,b

A

severe bleeding disorders (bleed excessively in response to minor trauma or spontaneous haemorrhage)
- abnormal bleeding in: gums, GI tract, urinary tract (haematruia), intracranial

105
Q

how is haemophilia diagnosed ? Ix ?

A
  • based on bleed scores
  • coagulation factor assays
  • raised APTT
  • low factor VIII assay (for A)
106
Q

haemophilia Mx ? during acute bleeding ?

A

Iv infusion of missing clotting factor
- during acute bleeding: IV clotting factor infusion, antifibrinolytics

107
Q

what is leukaemia ? classified how ?

A

leukaemia is cancer of particular line of stem cells in the bone marrow => unregulated production of some type of bleed cells
- classified on how rapidly they progress (chronic is slow and acute fast
- myelogenous of lymphocytic according to predominate cell type

108
Q

what are the sx of leukaemia a result of ?

A

sx are result of
- bone marrow failure (pancytopenia)
- organ infiltration (hepatosplenomelgay)
- hyperviscosity

109
Q

describe leukaemia pathophys ? what happens in the bone marrow

A

leukaemia is a form of cancer of the cells in the bone marrow => excessive producitonof single type of abnormal WBC => suppression + underproduction => pancytopenia

110
Q

acronym for leukaemia ages distribution ?

A

ALL CeLLmates have CoMmon Ambition
- ALL: <5
- CLL: >55
- CML: >65
- AML: >75

111
Q

leukaemia presentation ?

A
  • non-specific (pancytopenia)
  • fatigue
  • fever
  • failure to thrive
  • palor
  • petichae
    , abnormal bruising and bleeding
  • lypphadenopathy
112
Q

leukaemia Ix ? (4)

A
  • FBC first thing
  • bone marrow biopsy (definitive diagnosis)
  • lymph node biopsy (investigate fo lymphoma)
  • CT/MRI staging
113
Q

What is ALL ?

A

malignant change in one of lymphocyte precursor cells => acute proliferation of single type of lymphocyte (usually B) => replace bone marrow cells => pancytopenia
- lymphoid precursor cells replace haematopoeitc cells of bone marrow and infiltrate carious body organs

114
Q

who is ALL associated with ? (2)

A
  • most common leukaemia in children
  • associated with downs syndrome
  • old white man
115
Q

ALL Ix ? what seen on blood film ? definite diagnosis ?

A
  • FBC (anaemia, cytopenia)
  • blood smear (leukaemia lymphoblasts present)
  • definitive diagnosis: bone marrow aspiration + biopsy (>20 lymphoblasts)
116
Q

what is used to present tumour lysis syndrome in ALL ?

A

allopurinol

117
Q

ALL prognosis ?

A

overall good prognosis in kids, bad in adults

118
Q

which two leukaemias are clinically indistinguishable ? how to distinguish ?

A

AML + ALL
- so confirm cell origin with peripheral blood smell or bone marrow biopsy

119
Q

auer rods indicate what leukaemia ?

A

AML
(on bone marrow biopsy)

120
Q

what is AML ?

A

life threatening haematological malignancy caused by clonal expansion of myeloid blasts in the bone marrow
=> bone marrow failure

121
Q

AML RF ?

A

->75
- male
- chemo
- prev haematological disorders (aplastic anaemia)

122
Q

AML Ix ?

A