Brainscape's Knowledge GenomeTM

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


See full index

CP - JL > Haematology - Part 2 > Flashcards

Haematology - Part 2 Flashcards

1
Q

Macrocytic anaemia causes

A

B12/folate deficiency, marrow damage (e.g. alcohol), haemolysis (as reticulocytes are pumped out)

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

Normocytic anaemia causes

A

Chronic Disease

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

Microcytic anaemia causes

A

Iron deficiency, Hb Disorders, sometimes chronic disease

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

Where is iron absorbed

A

7% absorbed in the duodenum (some in the jejunum)

We have no excretion mechanism for iron

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

What stores and transports iron

A

Transferrin - transports

Ferritin/haemosiderin - stores

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

Blood results of iron defeciency anaemia

A

Low ferritin is the key sign and a high number of hypo chromic cells

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

Causes of iron defeciency

A

Blood loss, increased demand, reduced intake

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

Common cause of iron deficiency in the elderly

A

GI problems, think bleeding i.e. colon cancer in elderly men

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

What causes megaloblastic anaemia

A

Due to problems in DNA synthesis due to B12/folate defeciency.

B12 needed to make folate, folate needed to make purine/pyrimidine DNA bases

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

What congenital rarities cause megaloblastic anaemia

A

transcobalmin defeciency, orotic aciduria

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

Where do we get vitamin B12 from

A

Only from animal sources
Absorbed in the terminal ileum using intrinsic factor from gastric parietal cells
stores sufficient for years

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

Causes of B12 defeciency

A

reduced intake, gastric problems (e.g. gastrectomy), or small bowel problems e.g. diverticulosis, ileostomy, fish tapeworm

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

Where do we get folic acid from

A

Green veg, beans, peas
We need a decent daily diet to get enough
Absorbed in the upper small bowel
Stores sufficient for 4 months

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

Cause of folic acid defeciency

A

Poor intake
Increased demand
Malabsorption
Drugs/alcohol/ITU

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

Features of B12/folate defeciency

A 
pancytopenia
megaloblastic anaemia
mild jaundice
glossitis/angular stomatitis
anaemia
sterility
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

lab results of B12/folate deficiency

A

High LDH/bilirubin, check for antibodies, do GI investigations and B12 absorption tests.

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

What is Pernicious Anaemia

A

The main cause of B12 deficiency
Autoantibodies made to intrinsic factor –> other autoimmune associations
Also associated with atrophic gastritis with achlorydia
Higher risk of stomach cancer

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

What is Subacute Combined Degeneration of the Cord (SACDC)?

A

Due to severe B12 defeciency
Demyelination of the dorsal and lateral columns and the peripheral nerves
Get neurological symptoms, numbness and weakness, unsteady and dementia

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

How to treat SACDC

A

Give B12 and folate acid, do not give folate acid alone. B12 for life and folate to boost stores.
May need K+ and Fe initially

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

3 Areas where haemolysis can occur

A

Inside cell: (Haemoglobinopathies or enzyme defects e.g. G6P)
Membrane: hereditary spherocytosis etc.
Outside cell: autoantibodies, drugs, heart valves (fragmentation of the blood)

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

Blood results shown in haemolysis

A 
Raised LDH/bilirubin
Low haptoglobin
High MCV (due to reticulocytes)
Urinary haemosiderin
Blood film fragments
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

How to treat autoimmune haemolytic anaemis

A

Steroids/immunosuppression

Transfusion difficult due to difficulty cross matching

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

3 causes of anaemia of chronic disease

A

Poor Fe Metabolism
Reduced Epo response
Reduced bone marrow activity

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

What is the main cause of anaemia of chronic disease

A

CYTOKINES - macrophages produce inflammatory cytokines to try and cause iron release

IL-1, IL-6, TNF & Hepicidin

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

What is the main regulator of iron absorption and release from macrophages

A

Hepicidin!

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

What are iron stores like in anaemia of chronic disease

A

Normal stores but poor absorption/release

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

How to treat anaemia of chronic diesease

A

Expo + Transfusion (but transfusion often rare due to mild symptoms)

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

Whats it ITP

A

Immune Thrombocytopenia Purpura

Rarely life threatening –> can cause cerebral haemorrhages

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

Main causes of ITP

A

Often in children post viral –> usually self limiting

Get low platelets, petechiae and brusing (particularly on the lower legs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

How to treat ITP

A

Steroids first
Immunosuppression second
Thrombo-mimetics (elthrombopig and romiplastin) cause bone marrow to make more platelets)

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

What are 2 thrombo-mimetics

A

Eltrombopid and romiplastin

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

What is TTP

A

Thrombotic Thrombocytopenia Purpura

RARE BUT URGENT

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

TTP Symptoms

A

Fever, neurological sypmtoms, haemolysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Most common causes of TTP

A 
Most autoimmune (ADAMTS-13/VWD)
Seek evidences of microangiopathy, look for blood film fragments, damaged vessels activate clotting, platelets used up causing DIC
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Treatment of TTP

A

Plasma transfusion
Steroids
Vincristine/Rituximab
Monitor ADAMTS-13 –> an enzyme we just need to be ok

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

2 Stages of B Cell Differentiation

A

1) Antigen Independent - in the bone marrow

2) Antigen Dependent - in the lymphoid tissues

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

What is expressed for all of B cell differentiation

A

CD19

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

What is expressed during heavy gene rearrangement

A

CD79 + PAX

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

What is expressed at the end of light gene rearrangement

A

sIgM

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

What is expressed on plasma cells

A

CD38

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

What are the transformed cells of the germinal centre called

A

Centro blasts, they either undergo apoptosis or become centrocytes

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

How many chains are there in immunoglobulins

A

4, two are heavy (IgM,G etc), 2 are light (kappa or lamda)

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

When do we do immunofixation

A

After electrophoresis - do if we see an M speak
It detects and identifies monoclonal antibodies
Classified further than electrophoresis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Where would you find Bence Jones protein and what does it indicate

A

In the urine, indicating myeloma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Who is myeloma more common in

A

Afro-caribbeans

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What is the criteria for having myeloma

A

clonal plasma cells>10%, biopsy proven AND CRAB symtpoms

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

What are CRAB symptoms

A

hyperCalcaemia
Renal insufficiency
Anaemia
Bone pain/lesions

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

What organ is often involved in myeloma

A

KIDNEYS

If AKI suspected with myeloma GIVE STEROIDS ASAP

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

How to manage myeloma

A

intensive chemo (generally only for younger and fitter)
VCD 4 cycles
then GCSF
Then big chemo after to recover

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

What is MGUS

A

Precedes all myeloma cases, absence of end organ damage.

Serum M protein

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

What is amyloidosis

A

light chain fragments misfold and aggregate and form beta fibrils deposited in organs e.g. kidneys

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

What does amyloidosis present with

A

low albumin and nephrotic proteins in the urine

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

What can amyloidosis also cause

A

cardiac/liver involvement, ESRF, and peripheral neuropatthy

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

What does MGUS present with

A

Normal bloods but high paraprotein

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

What is a paraprotein

A

A protein associated with cancer or other disease

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

What is follicular lymphoma

A

Neoplastic disorder of lymphoid tissue
IT IS A TYPE OF NON_HODGKIN LYMPHOME
Presents with lump in the neck

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

What is Hodgkin Lymphoma characterised by

A

Hodgkin Reed Steinberg Cells (HRS) –> these lack Ig hence avoid apoptosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What is hodgkin lymphoma associated with

A

EBV

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

What does amyloid stain like

A

apple green

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

What are the 3 main chronic myeloproliferative disorders

A

Polycythaemia Vera
Thrombocytosis
Myelofibrosis

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

Polycythaemia Symtpoms and Signs

A

Insidious onset, itching, gout, tinitis, malaise, headache, engorged retinalveins, splenomegaly

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

Diagnosis of Polycythaemia Vera

A

Raised Hb, Hct over 0.5
Deteremine if relative or absolute
Loss of fat spaces in the bone marrowo

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

causes of secondary polycythaemia Vera

A

Expo producing tumours, central hypoxic process, CO poisoning, R–>L Heart shunts, altitude, renal disease

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

Second line test for polycythaemia Vera

A

Test the Epo
If Epo raised think secondary –> do a chest X-ray, abdomen USS and ABG
If Epo Normal think primary

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

Causes of primary PV

A

1) JAK2 mutation –> point mutation means JAK2 always activated whereas normally Epo activates it
2) Bone marrow problems
3) Exon12 mutatino

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

Treatment of PV

A

Venesections and aspirin

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

Thrombocytosis causes

A 
Primary = essential, no known cause
Secondary = iron deficiency, post op, inflammation, haemolyisis, post-chemo
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

Tests of thrombocytosis

A

FBC, ferritin, CRP, CXR, ESR

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

Mutations in Thrombocytosis

A

JAK2 mutation in 50%
CALR Mutation in 50% –> encodes for calreticulin gene that is cell signalling protein in the ER, mutation in exon 9 of the gene. BUT causes lower thrombosis risk with the mutation

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

Treatment of thrombocytosis

A

Anti platelets and aspirin for all

Cytoreduction if you have a risk factor

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

What are risk factors in thrombocytosis

A 
Age
Diabetes
Hypertension
Previous thrombotic events
Platelet count over 1500
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

What does cytroreduction consist of

A

Hydroxycarbamide –> anti-folate to inhibit DNA synthesis
Interferon
Anagleride –> specific inhibitor of megakaryocytes
P32 –> can induce leukaemia so only use for 6 months

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

What is myelofibrosis

A

Rearrangement of the architecture of the bone marrow and fibrosis is laid down

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

Presentation of myelofibrosis

A

Pancytopenia, splenomegaly, B Symptoms (night sweats, fever and weight loss)

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

What are B symtpoms

A

fever, night sweats and weight loss

Characteristic of blood cancers

76
Q

What do we see in myelofibrosis investigations

A

Tear drop shaped RBC, blast cells and nucleoerythromatic cells in the blood
JAK2 mutatino in 50%
CALR mutation in 30%

77
Q

Cause of splenomegaly

A

CHICAGO

C - cancer
H - haematological (myelofibrosis, CLL, hairy cell leukaemia)
I - infection (schistosomiasis, EBV, malaria, leishmaniosis)
C - congestion, liver disease/portal
A - autoimmune (SLE, haemolysis)
G - glycogen storage disorders
O - other (amyloid, sarcoid)

78
Q

Treatment of myelofibrosis

A

Supportive care
JAK2 inhibitors (massively reduce splenomegaly)
Bone marrow transplant

79
Q

Chronic Myeloid Leukaemia Genetics

A

Chr 9 (abl) gene translocated to Chr 22 (bcr gene)
creates bcr/abl fusion gene coding for a tyrosine kinase
PHILADELPHIA CHROMOSOME

80
Q

CML Presentation

A

Leucocytosis, leucoerythroblasts in blood, anaemia, splenomegaly, fatigue, gout, abdominal pain, venous occlusion (DVT, priapism, retinal vein), abdominal discomfort

81
Q

Treatment of CML - old

A

Chemo and bone marrow transplant

82
Q

Normal breakpoint of CML gene

A

p210

83
Q

New treatment of CML

A

Gleevec (imatnib) –> tyrosine kinase inhibitor

Massively reduces splenomegaly
But imatnib resistance is arising –> new drugs target different parts of tyrosine kinase to overcome the problem

84
Q

What is acute leukaemia the result of?

A

The accumulation of early myeloid or early lymphoid progenitors in the bone marrow or other organs

Due to somatic mutation in single cell of early progenitor –> can be somatic or terminal of illness (myelofibrosis or previous chemo)

85
Q

what are the 2 main types of acute leukaemia

A

acute lymphoblastic leukaemia

acute myeloid leukaemia

86
Q

ALL properties

A

Affects B & T lymphoblasts

Blast cells in peripheral blood, much less cytoplasm than AML cells

87
Q

AML Properties

A

Affects myeloid progenitors and their first divisions

Blast cells in peripheral blood, contain granulocytes with large nucleus

88
Q

What are the presenting features of acute leukaemia

A

Anaemia, infection, bruising/haemorrhage

89
Q

Where does AML infiltrate

A

Rare to infiltrate other organs, mainly in the bone marrow. Can infiltrate to the liver/skin

90
Q

Where does ALL infiltrate

A

Lymphoid organs –> lymph gland swellings in cervical, mediastinal, loin, axillay.
Hepatomegaly

91
Q

Common infections found in AML

A

Staph. aureus infection of orbit
Perianal infections due to Staph. Faecalis and E.coli –> this may be the presenting feature
Haemorrhage (haemorrhagic ecchymoses)

92
Q

Common infections in ALL

A

Oral candida

93
Q

What does gum hypertrophy suggest?

A

AML monocytic subtype M5

94
Q

Main methods of acute leukaemis diagnosis

A

Immunological markers –> flow cytometry
FISH
Cytochemistry etc.

95
Q

2 methods of AML classification

A

FAB and WHO

96
Q

What are immunological markers in acute leukaemia diagnosis?

A

Monoclonal Ab to antigens on cells –> fluorochroe attached

Allows Fluorescence activtivated cell sorting (FACS)

97
Q

Cytogenetics of AML

A

(8:21) translocation, 15:17 translocation and monosomy 7 all have good prognosis

98
Q

Cytogenetics of ALL

A

9:22 translocation is bad prognosis - Philadelphia chromosome encodes a tyrosine kinase which is the main driver for immature cell proliferationn

99
Q

Chromosome abnormalities in ALL

A

More changes in chromosome number
Hyperdiploidy - good prognosis
Hypodiploidy - bad prognosis

100
Q

Poor prognosis factors in ALL

A

Age(over 10), high WCC, mole, T cell ALL

101
Q

15:17 PML-RAR translocation indicates what

A

Acute promyelotic leukaemia

Explains its response to all trans retinoic acid

102
Q

AML-ETO 8:21 translocation

A

Can monitor it see response to treatments in AML

103
Q

Molecular Pathology in AML: Abnormal Cell Proliferation

A

FLT3 (bad prognosis), Ras and C-Kit mutations

104
Q

Molecular Pathology in AML: Block in differentiation

A

CBF-AML, PML-RAR and MLL translocations

105
Q

Molecular Pathology in AML: Tumour suppression

A

NPM1 –> NPM1 is a good prognosis

106
Q

Treatment of AML

A

2 induction chemo, 2 consolidation chemo and further chombination chemo
Bone marrow transplants potentially in younger patiens

107
Q

Treatment of ALL

A

Induction and consolidation chemo
BUT ALL often spreads to CNS/testis and conventional chemo doesn’t cross the BBB
Give intrathecal methotrexate

108
Q

Chance of sibling being a HLA bone marrow match

A

25%

Can harvest bone marrow from peripheral blood, give GCSF a few days prior

109
Q

What is neutropenic sepsis

A

a complication of chemo given for acute leukaemia

Danger of overwhelming infection of both from negative and positive infections

110
Q

When do people become neutropenic

A

days 10-21 in intensive chemo

111
Q

What is neutropenic fever

A

Pyrexia in the presence of a neutrophil count less than 1x10^9 - neutrophil count often falls below 0.2

112
Q

Treatment for neutropenic sepsis

A

Broad spectrum antibiotics (tazocin and gentamicin)

113
Q

Other protective measures against neutropenic sepsis

A

Hand hygiene
Protective isolation
Prophylactic antibitoics (leufloxacin)
Granulocyte colony stimulating factors

114
Q

What antibiotic is given prophylactically to protect against neutropenic sepsis

A

Leufloxacin

115
Q

What causes the clinical features of acute leukaemia

A

The impaired production of normal cells

116
Q

What are the 3 components of Virchow’s triad

A

Change in blood constituents, change in blood flow, vascular endothelium

117
Q

What is the main cause of arterial thrombosis

A

Atherosclerosis

118
Q

What is the main component of an arterial clot

A

Platelet rich

119
Q

Main cause of venous thrombosis

A

Mainly due to venous stasis or a hypercoaguable state

120
Q

Main component of venous clot

A

fibrin rich

121
Q

What is post thrombotic syndrome

A

1/3 of people develop it after a clot

Get chronic leg symptoms (swelling, discomfort, ulceration) due to damage to veins post clot

122
Q

How to prevent VTE’s

A

Risk assessment are prophylaxis

NOTE ASPIRIN AND ANTIPLATETS ARE NOT ACCEPTABLE PROPHYLAXIS TO STOP A VTE

123
Q

What is treatment of VTE if patient is prone to bleeding

A

Mechanical treatment e.g. compression stockings

124
Q

VTE Risk factors

A

oral contraceptives, cancer, over 60, HRT, immobility, major trauma, family history, varicose veins with phlebitis

125
Q

How to low dose LWMH and fondaparinux work

A

Enhance anti-thrombin

126
Q

What is Rivaroaxiban (also aprixiban)

A

A direct FX inhibitor, acts independent of antithrombin

127
Q

What is Dabigatron

A

Direct thrombin inhibitor

128
Q

Unfractioned heparin acts on what

A

Anti-thrombin and Xa (slightly more anti-thrombin effect)

129
Q

LMWH acts on what

A

Doesn’t directly interact with antithrombin, or interacts with Xa less than 18 polysaccharid units

Predominantly FXa effect

130
Q

Fondaparinux (paraenteral)

A

Only FXa effect

131
Q

When is D-dimer produced

A

Breakdown of fibrin clots by plasmin, produces a specific cross-linking patters

132
Q

What do we look for on Doppler US

A

non-collapsing veins, intravascular defect, loss of flow

133
Q

What do we do if we suspect a PE

A

CT - PA

VQ scan - ventilation-perfusion mismatch is diagnostic of a PE

134
Q

Treatment of DVT/PE

A

LMWH Heparin first then transition onto Heparin after at least 5 days

135
Q

How do FXa: Rivorixaban works

A

Acts via antithrombin

136
Q

How does dabigatran work

A

Acts independent of antithrombin to directly inhibit

137
Q

does LMWH affect the INR

A

No

138
Q

Do all anticoagulants affect bound thrombin

A

No only direct thrombin inhibitors can

139
Q

Benefits of direct thrombin inhiitors

A

Uniform dose for all patients and rapid onset of action

Exceptions: lower dose for elderly, those with renal insufficiency, VTE prevention and AF

140
Q

Heritable types of thrombophilias

A

Deficiencies of antithrombin and protein C/S
Activated Protein C resistance
Dysfibrinogenaemias
Prothrombin 2021A

141
Q

Acquired thrombophilias

A

Antiphospholipid syndrome

142
Q

Effects of thromophilias

A

DVT, PE, Superficial thrombophlebitis, thrombosis in veins

protein c defeciency - warfarin induced skin necrosis
APS - fetal wastage and arterial thrombosis

143
Q

What does antithrombin inhibit

A

FII, FX, thrombin

144
Q

How is Protein C activated

A

thrombin binds to thrombomodulin on endothelial walls and activates it, protein S binds as a cofactor

145
Q

What does protein C cleave by proteolysis

A

FV and VIII

146
Q

How are defeciencies in protein C,S and antithrombin inherited

A

Autosomal dominantly

147
Q

What is factor V leiden mutation

A

Point mutation G to A where protein C cleaves factor V making it resistance

Heterozygous - slight increased risk of bleeding, no risk of recurrent bleeding
Homozygous - x30 increased risk of bleeding

148
Q

Prothrombin 2021A mutation, describe

A

Mutation in the untranslated 3’ enhancer region of the prothrombin gene, causes increased prothrombin levels

149
Q

What is antiphospholipid syndrome

A

Antibodies against phospholipids

150
Q

How do we diagnose APS

A

Antibodies present on 2 occasions 8 weeks apart AND venous or arterial thrombosis or 2 miscarriages

151
Q

are the majority of APS cases primary or secondary

A

Primary

152
Q

RBC Functional differences in children

A

Larger RBC with higher oxygen affinity and higher haematocrit

153
Q

What happens to haematopoiesis in the newborn

A

Switches off for the first 10 weeks

154
Q

When does blood count reach normal values

A

By 3 months

155
Q

What RBC genes are on chromosome 16

A

alpha (can send out zeta then alpha)

156
Q

what RBC genes are on chromosome 11

A

beta (can send out epsilon then gamma)

157
Q

HB in 4-14 weeks

A

HB Gower 1 - epsilon and zeta

158
Q

Hb Portlant

A

epsilon, gamma

159
Q

Hb Gower - 2

A

alpha epsilon

160
Q

HB at 14 weeks gestation

A

HB F - alpha, gamma

161
Q

neonatal Hb

A

Hb-A (45%) - alpha, beta rest is HbF

162
Q

HbA2

A

alpha, delta

163
Q

WBC Count in children

A

Higher

164
Q

What Ig can cross the placenta

A

IgG can, IgM cannot

165
Q

What IgG are in breast milk

A

All of them - passive immunity

166
Q

When can we make anatibodies

A

Can make them at 2-3 months but can’t mount a sufficient immune response until 6 months

167
Q

When do we start vaccinating children

A

2-3 months

168
Q

When do platelets reach adult value

A

18 weeks gestation

169
Q

functional differences in platelets at birth

A

hyperresponsive to vWF
hyporesponsive to certain agonists
Differences balance out

170
Q

What coagulation factors are normal at birth

A

fibrinogen, factor V, VIII and XIII

171
Q

Can coagulation factors cross the placenta

A

Not effectively

172
Q

When do coagulation factors reach normal levels

A

6 months

173
Q

Describe Vitamin K relationship in utero/newborn

A

Metal vitamin K is just 10% of the mothers –> can cause hemorrhagic disease of the newborn hence we give vitamin K injections

174
Q

What exacerbates the problem of vitamin K in pregnancy

A

If you are on oral anticonvulsants –> hence give mothes oral vitamin K too

175
Q

Is warfarin teratogenic

A

Yes

176
Q

What happens to coagulation inhibitors in neontaes

A

Concentrations reduced, antithrombin, heparin cofactor II, protein C/S, TFPI

177
Q

Summarise neonatal haemostasis changes

A

Reduced coagulation factors
Reduced concentration of coagulation inhibitors
Functionally different platelets
Raised D-Dimer and vWF
Unique forms of fibrinogen and plasminogen

178
Q

Congenital causes of anaemia in childhood

A

Haemaglobinopathies, bone marrow failure, peripheral destruction and blood loss (twin to twin transfusion)

179
Q

Why can you get peripheral destruction of RBC

A

Rh/ABO incompatability
Membrane defects e.g. hereditary spherocytosis
Enzyme defects e.g. G6PD, PK
Infection

180
Q

What do children with ALL often present with

A

anaemia

181
Q

Causes of acquired anaemia in children

A

Nutritional defeciency
bone marrow failure
peripheral destruction homeless or blood loss

182
Q

What is Immesten Greysbeck syndrome

A

Rare cause of B12 deficiency where you can’t move B12 out and make use of it

183
Q

Congenital causes of bleeding/bruising

A

Platelet problems (mostly)
Clotting factor problems
Connective tissue disorders e.g. Ehlers Danlos

184
Q

Acquired causes of bleeding/bruising

A

Trauma, tumour, infections (meningococcus, HIV)
Immune - Primary is ITP, TTP
Secondary - SLE, ALPS
Bone marrow failure or drug related

185
Q

What do we not use to treat TTP

A

Platelets as just causes more clots

186
Q

What is ALPS

A

Autoimmune lymphoproliferative disorder - autsomal dominant inheritance

CP - JL (14 decks)

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