Haem Flashcards
1
Q
What is prothrombin time
A
The coagulation speed through the extrinsic pathway (10-13.5s)
2
Q
How do you calculate INR
A
Patient PT/ Reference PT
3
Q
What can raise INR
A
Anticoags
Liver Disease
Vit K deficiency
Disseminated intravascular coag (DIC)
4
Q
What is Activated partial Thrombo-plastin (APT) time
A
Coagulation speed through Intrinsic Pathway
5
Q
Examples of microcytic anaemia
A
Fe deficiency (MC)
Thalassemia
sideroblastic anaemia
Lead poisoning
Chronic disease
6
Q
Examples of Haemolytic normocytic anaemia
A
Sickle cell
GGPDH deficiency
Autoimmune hemolytic anaemia (AHA)
Hereditary spherocytosis (rbc are spherical instead of bi-concave)
7
Q
Examples of non haemolytic anaemia
A
Aplastic
Chronic disease (especially CKD)
Pregnancy
Hypothyroidism
8
Q
Examples of megaloblastic macrocytic anaemia
A
B12 Deficiency
Folate deficiency
9
Q
Examples of non-megaloblastic macrocytic anaemia
A
Alcohol
Hypothyroidism
NALD
10
Q
Symptoms of anaemia
A
Fatigue, pallor, chest pain, exertional dyspnoea, tachycardia, hypotension, palpitations
11
Q
Most common cause of iron deficiency anaemia worldwide
A
Hookworm (causes GI bleeding)
12
Q
What age is recommended for urgent endoscopy with fe deficiency
A
60+ (red flag for colon cancer)
13
Q
What can cause malabsorption of fe
A
IBD, Coeliac
14
Q
Other than general anaemia Sx, what do you get in fe deficiency
A
Koilonchya (spoon-shaped nails)
Angular stomatitis (ulceration @ mouth corners)
Atrophic glossitis (tongue enlarged)
15
Q
What do you see on blood film of fe deficiency anaemia
A
Hypochromic RBC, target cells + howell Jolly bodies
16
Q
What do fe studies show in someone with fe deficiency anaemia
A
Low serum fe
Low ferritin
Low transferrin
Raised Total iron binding capacity
17
Q
What is the treatment for fe deficiency anaemia
A
Treat underlying causes then
Ferrous sulphate (Oral Fe)
18
Q
What are side effects of ferrous sulphate
A
GI upset, diarrhoea/ constipation, black stool
If poorly tolerated then consider ferrous gluconate
19
Q
What is the inheritance pattern of thalassemia
A
Autosomal resseive
20
Q
What anaemias are protective against malaria
A
Thalassemia, sickle cell
21
Q
What is the gold standard investigation for Thalassemia
A
Hb electrophoresis
22
Q
Is alpha or beta thalassemia more common
A
Beta
23
Q
What mutations cause alpha thalassemia
A
4 genes of chromosome 16 (deletions)
24
Q
What mutations cause beta thalassemia
A
2 genes on chromosome 11
25
Which thalassemia is associated with abnormal Hb isoforms
Alpha (HbH isoform)
26
What are the 3 classes of beta thalassemia
Thalassemia minor/ intermedia/ major
Minor:- carrier
Inter:- marked anemia
Major:- severe anaemia
27
What gene abnormalities do patients have with each of the beta thalassemia classes
Minor:- 1 abnormal 1 normal
Inter:- 1 abnormal 1 deletion or 2 abnormal
Major:- 2 deletion
28
Other than general anaemia Sx, what do you see in beta-thalassemia major
Chipmunk face:- massively enlarged cheekbones and forehead due to decreased RBC needing extramedullary haematopoiesis
Hepatosplenomegaly
Failure to thrive
May see RUQ pain due to gallstones
29
What do you see on blood film in thalassemia
Hypochromic RBC, Target cells
30
What do you see on XR in thalassemia
'Hair on end' due to increased bone marrow activity in the skull
31
What is the treatment for thalassemia
Regular transfusion
Iron chelation:- to prevent Fe overload
Splenectomy after 6 y/o
Folate supplements for haemolytic
Vit C
32
What is side effecst of iron chelation
Deafness
Cataracts
33
Why do you wait until after 6 y/o for splenectomy in thalassemia
Spleen plays a defensive role against encapsulated bacteria
34
What is the definitive treatment for thalassemia
BM stem cell transplant:- risky
35
What is sideroblastic anaemia
Defective Hb synthesis
36
What is most common inheratance for sideroblastic anemia
X linked
37
What is a functional Fe deficiency
High levels of Fe but not used in Hb synthesis, becomes trapped in mitochondria
38
What do you see on blood film in sideroblastic anemia
Ringed sideroblasts + basophilic strupping
39
What do Fe studies show in sideroblastic anaemia
High Fe
High ferritin
High transferrin sats
Low Total iron binding capacity
40
Where can haemolyisis occur and what is marker to differentiate
Intravascular:- marked by raised haptoglobin
Extravascular @ spleen
41
What is the inheritance pattern for sickle cell anaemia
Autosomal recessive
42
GS investigation for sickle cell anaemia
Hb electrophoresis
43
What malaria is sickle cell protective against
Falciparum malaria
44
What is the mutation and amino acid change seen in sickle cell anaemia
GAG to GTG
Glutamic acid to valine
45
Which codon is affected in sickle cell anemia
6th
46
What are the complications of sickle cell anaemia
Splenic sequestration:- spleen expanding due to trapped RBC
Vaso-occlusive crisis:- sickle cells polymerise and get trapped in long bone blood vessels
Acute chest crisis:- pulmonary vaso-occlusion (emergency)
47
In patients with sickle cell disease, what organism is most likely to cause osteomyelitis
Salmonella
48
What do you see on the blood film in sickle cell anaemia
Normocytic normochromic w/ increased reticulocytes
Sickled RBC + Howell Jolly Bodies
49
How do you treat acute attacks in sickle cell
IV Fluid+ NSAIDS + O2
50
What is the long term treatment for sickle cell disease
Hydroxycarbamide + folic acid supps
Transfusion, Fe Chelation
51
What is the inheritance pattern for G6PDH Deficiency
X linked recessive
52
What is the pathology of G6PDH deficiency anaemia
Enzynompathy causes a dysfunction in the G6PDH enzyme which is involved in the synthesis of glutathione. Glutathione protects RBC against ROS. Halfs the length of RBC
53
Symptoms of G6PDH deficiency
Mostly aSx unless precipitated
Naphthalene:- Pesticide in mothballs
Antimalarials:- quinine
Aspirin
Fava Beans:- Contains Glucosides
54
How does a G6PDH attack present
Rapid anemia+ Jaundice
55
What do you see on a blood film of G6PDH between attakcs
Normal
56
What do you see on a blood film in a G6PDH attack
Normocytic normochromic w/ increased reticulocytes
Heinz bodies + bite cells
57
What is management for G6PDH deficiency
Avoid precipitants
Transfusions when attacks ensue
58
What is the inheritance pattern for Hereditary Spherocytosis
Autosomal dominant
59
Age of onset for CML, CLL, AML, ALL
ALL CeLLmates have CoMmon AMbitions
ALL:- under 5 over 45
CLL:- over 55
CML:- over 65
AML:- over 75
60
1st line investigation in Lueakmia
FBC
61
DDx of Petechiae
Leukaemia
Meningococcal septicaemia
Vasculitis
Non-Accidental injury
62
GS investigation for leukaemia
Bone marrow biopsy
63
Bone marrow aspiration vs Bone marrow trephine
Aspiration:- liquid sample, can be examined straight away
Trephine:- Solid core sample provides better picture, requires a few days of preparation
64
What cell is usually affected n ALL
Proliferation of B-Lymphocytes
65
What chromosome abnormality is ALL associated with
Trisomy 21 Downs
66
What does ALL show on blood film
Blasts
67
What is the translocation that occurs in the Philadelphia chromosome
9:22
68
What % of adults with ALL have Philidelphia chromosome
30%
69
What is CLL
Chronic lymphocytic leukaemia is where there is chronic proliferation of a single type of well-differentiated lymphocyte, usually B-lymphocyte
70
What is ALL
Acute lymphoblastic leukaemia is where there is a malignant change in one of the lymphocyte precursor cells. It causes acute proliferation of a single type of lymphocyte, usually B-lymphocytes.
71
Sx of CLL
Often asymptomatic but can present with
Infections
Anaemia
Bleeding
Weight Loss
72
What anaemia can CLL cause
Warm autoimmune haemolytic anaemia
73
What can CLL transform into and what is this known as
High-grade lymphoma
Richters transformation`
74
What do you see on a blood film in CLL
Smer/ smudge cells
These occur during preparation of blood film when aged/ fragile WBC rupture
75
What are the 3 phases of CML
Chronic phase
Accelerated phase
Blast phase
76
What occurs in the chronic phase of CML
Lasts around 5 years
Often Asymptomatic
Patients diagnosed initially with raised WCC
77
What is the accelerated phase of CML
The abnormal blast cells take up 10-20% of the cells in the bone marrow.
Patients become more symptomatic
Develop anaemia and thrombocytopenia become immunocompromised
78
What is the blst phase of CML
Blast cells take up 30% of bone marrow
More severe symtpoms
Pancytopenia
Often fatal
79
What is the cytogenic gene change that is characteristic of CML
Philadelphia chromosome t(9:22)
80
What do you see on blood film in AML
A high proportion of blast cells with rods inside their cytoplasm known as Auer rods
81
Examples of myeloproliferative disorders AML can transform from
Polycythemia ruby vera
Myelofibrosis
82
What are the complications of chemotherapy
Failure
Stunted growth
Infections
Neurotoxicity
Infertility
Secondary malignancy
Cardiotoxicity
Tumour lysis syndrome
83
What is leukaemia primarily treated with
Chemotherapy and steroids
84
What is tumour lysis syndrome
Caused by the release of uric acid from cells that are being destroyed by chemotherapy. The uric acid can form crystals in the interstitial tissue and tubules of the kidneys causing AKI.
85
What is tumour lysis syndrome
Caused by the release of uric acid from cells that are being destroyed by chemotherapy. The uric acid can form crystals in the interstitial tissue and tubules of the kidneys causing AKI.
86
What is given to treat tumour lysis syndrome
Allopurinol or rasburicase reduce uric acid levels
87
What are the general symptoms of leukaemia
Bone pain, Bleeding, infections, anaemia
88
What Sx of AML
General leukaemia
Gum infiltration
Hepatosplenomegaly
89
Sx of CML
General leukaemia
Massive hepatosplenomegaly
90
Sx of CLL
General
Lymphadenopathy
91
Treatment for CML
Chemo + imantinib
92
Treatment for ALL
Chemo
93
In which leukaemia do you sometimes give IVIg
CLL
94
Which lymphoma has Reed Steinberg cells
Hodgkins lymphoma
95
What are the B symptoms
Fever
Night sweats
Unintended weight loss
96
What the 3 grades of non-Hodgkin lymphoma
Low grade:- follicular
High grade:- Diffuse
Very high grade:- Burketsts
97
How would you describe the age presentation in Hodgkins lymphoma
Bimodal:- Teens and elderly
98
What virus is EBV associated with
Epstein Barr virus
(Glandular fever)
99
Sx of Hodgkins lymphoma
B symptoms
Painless rubbery lymphadenopathy
(Painful after drinking alcohol)
100
GS investigation for hodgkins lymphoma
Lymph node biopsy
Reed-Steinberg +ve
101
What is the effect of Hodgkins lymphoma on the levels of Lactate dehydrogenase, Hb and ESR
Raised ESR
Raised LDH
Reduced Hb
102
What do you use for staging lymphoma
CT/MRI chest/ abdo/ pelvis
Ann Arbour staging
103
What are the grades in the Ann Arbour staging
1:- Single lymph node
2:- 2 lymph nodes on the same side of the diaphragm
3:- Lymph odes on both sides of the diaphragm
4:- Extra nodal organ spread
(A or B if 'B' symptoms present)
104
Treatment for Hodgkins Lymphoma
ABVD chemotherapy
Adriamycin, Bleomycin, Vinblastine, Dacarbazine
105
What is Nodular Lymphocytic predominant Hodgkins
A subtype of Hodgkins that produces Popcorn Cell
106
What are SE of Chemo
Alopecia
N+V
Myelosuppression
Infection
107
What are patients whove just had high dose chemo at massive risk of
Febrile Neutropenia
108
What are Sx of febrile Neutropenia
Fever, Tachycardia, Sweats, Tachypnoea
109
Treatment for Febrile Neutropenia
Immediate broad-spec antibiotics
Amoxicillin
110
Is hodgkin or non-hodgkin lymphoma more common
Non hodgkin
111
What is the most common type of non-hodgkin lymphoma
Diffuse Large B cell 80%
112
What are Sx of non-hodgkin lymphoma
B symptoms
Painless rubbery lymphadenopathy not affected by alcohol
113
What is GS investigation for non Hodgkin lymphoma
Lymph node biopsy
Confirms subtype
114
What is the treatment for non Hodgkin lymphoma
R-CHOP chemotherapy
Rituximab
Cyclophosphamide
Hydrodaunorubin
Vincristine (Oncon)
Prednisolone
115
What does Rituximad tartget
CD20 on b cell
116
What is multiple myeloma
Neoplastic monoclonal proliferation of a plasma cell. Typically leads to excess production of 1 Ig
117
Sx of multiple myeloma
OLD CRAB
Old
HyperCalcemia
Renal failure
Anaemia
Bone lesions
118
What ethnicity are risk from multiple myeloma
Afro-Caribbean
119
What do you see on blood film in multiple myeloma
Normocytic normochromic anaemia
Rouleaux formation (aggregation of RBC)
120
Other than FBC and blood film, what investigations may you perform in suspected multiple myeloma
Urine dipstick (Bence jones proteins)
U+E:- renal failure
Bone profile:- Hypocalemia+ raised ALP
Serum electrophoresis:- Ig 'M Spike'
XR:- pepper pot skull
osteolytic lesion
121
What is a precursor to multiple myeloma
MGUS
Mammyloid gammopathy of undetermined siginifcance
122
What is the treatment for multiple myeloma
Chemotherapy, bisphosphonates, dialysis
Consider BM transplant
123
What is polycythemia
Increased RBC/ Hb
124
What is cause of primary and secondary polycythemia
Primary:- Polycythemia Vera
Secondary:- Hypoxia, Increased EPO, Dehydration (alcohol)
125
What mutation is present in 95% of polycythemia vera
JAK2V617
126
Sx of polycythemia vera
Itchy after a bath, burning in fingers and toes (erythromelalgia), reddish complexion, blurred vision/ headache, hepatosplenomegaly
127
What does FBC show in polycythemia vera
Raised WCC/ platelets/ RBC
128
Treatment for polycythemia vera
Non-curative
Venesection + aspirin
Consider chemo in high-risk patient (hydroxycarbamide)
129
What is inheritance pattern of haemophilia
X linked recessive males more affected
130
Is haemophillia A or B more comme
A
131
Sx of haemophilia
Spontaneous bleeds, haemarthrosis, very easy bruising + epistaxis
132
How are PT and APTT affected in haemophilia
Normal PT but increased APTT as only intrinsic pathway affected
133
Which clotting factors are affected in haemophilia A and B
A:- factor 8
B:- factor 9
134
Investigations in haemophilia
Bleeding scores, coagulation factor assays,
135
Treatment for haemophilia A
IV factor 8 + desmopressin (releases factor 8 stored in vessel walls
136
Treatment for haemophilia B
IV factor 9
137
What is the inheritance pattern for VWF disease
Autosomal dominant
138
What chromosome is the VWF gene located on
12
139
What is the most common inherited bledding disorder
Von Willebrand Factor disease
140
How are PT and APTT affetced in VWF diseases
Normal Pt, Increased APTT
141
Treatment for von Willebrand factor diseases
Non-curative
Desmopressin (releases of VWF from endothelial Weibelpalade bodies
142
What is DIC
Disseminated intravascular coagulation
Massive activation of coagulation cascade
143
What can cause Disseminated intravascular coaulation
Trauma, sepsis (meningococcal meningitis rash), malignancy
144
How can DIC lead to a bleed risk
Platelets unnecessarily consumed = microthrombi form in small BV
Lack of systemic platelets
145
Treatment for DIC
Replace clotting factors, cryoprecipitate (replace fibrinogen), platelet transfusion + RBC transfusion if bleed.
146
How is D-Dimer affected in DIC
Raised
147
What is D-Dimer
Fibrin degradation product
148
What do you see on a blood film in EBV
Atypical lymphocytes
149
What age at risk form EBV
15-24
150
What conditions is EBV associated with
Hodgkins, Burketts, Nasopharyngeal carcinoma
151
What types of malaria with most common
Plasmodium falciparum MC
P. Ovale
P. vivax
P. malanese
152
What type of mosquitoes carry malaria
Female anopheles mosquito
153
Pathology of malaria
Sporozoites in mosquito salvia inoculate into human host
Mature in hepatocytes into merozoites
Then enter RBC:- merozoites to trophozoites to schizont to new merozoite
RBC rupture causing systm=emic infection
154
Sx of malaria
Fever +exotic travel
Anemia
Blackwater fever
Massive hepatosplenomegaly
155
Investigation for malaria
Thick and Thin blood film
3 samples sent over 3 consecutive days to exclude malaria due to 48hr cycle
156
Treatment for malaria
Quinine+ Doxycycline
IV artesunate if severe
157
What is a SE of quinine
Hypoglycemia
158
Which is more virulent HIV-1 or HIV-2
HIV-1, is also more common
159
Pathology of HIV
HIV gp120 binds to CD4 on T helper
Endocytoses RNA + enzyemes
Reverse transcriptase turns RNA into DNA
Viral DNA is integrated into host
Protein synthesis
Viral proteins + RNA exocytose + take part of CD4
160
What testing do you undertake to diagnose someone with HIV
Anti HIV Ig
p24 Antibody
161
How do you monitor the progression of HIV
HIV RNA copies+ CD4 count
162
Treatment for HIV
HAAART
High active antiretroviral therapy
3 drugs
163
What is the progression of HIV
Primary infection leads to CD4 dip
Years of clinical latency
Then Fever, diarrhoea, night sweats, minor opportunistic infection (oral infection)
AIDS when CD4 <200/mm3
164
AIDS-defining conditions
CMV
Pneumocystis jirovecii pneumonia
Cryptosporidium (fungal)
TB
Kaposi sarcoma
Toxoplasmosis
Lymphomas
