Haematology Flashcards

1
Q

what is multiple myeloma

A

Malignant disease of plasma cells (differentiated B-lymphocytes) in bone marrow

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2
Q

define stem cell transplant

A

Any procedure where hematopoietic stem cells of any donor and any source are given to a recipient with intention of repopulating/replacing the hematopoietic system in total or in part

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3
Q

can stem cell transplant be offered instead of chemotherapy

A

NO
it is offered only after the cancer is kept under control with the chemotherapy

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4
Q

explain the 2 types of stem cell transplant

A

Autologous
origin: patient stem cells
rejection possibility: NO
disease use: Myeloma and Lymphoma
how it works:
1) some stem cells harvested and frozen
2) patient undergoes aggressive chemo to kill all cells
3) the frozen good stem cells infused back into the patient
recovery: shorter

Allogenic
origin: donor stem cells
possibility of rejection: YES
disease use: Blood cancers like AML, ALL, MDS that cannot be cured by chemotherapy
How it works:
1) patient undergoes aggressive chemo to kill all cells
2) donor (ex. sibling) stem cells are infused into patient
3) previous killing of all bone marrow cells with chemo lowers the chance of patient immune system killing donor stem cells
recovery: longer

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5
Q

what type of stem cell transplant in preferred in myeloma

A

autologous stem cell transplant

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6
Q

how are the stem cells mobilised and harvested

A

Done with G-CSF (Granulocyte Colony-Stimulating Factor) - mobilizes haematopoietic stem cells

The patient undergoes leukapheresis, a procedure similar to dialysis, where blood is withdrawn, stem cells are separated, and the remaining blood components are returned to the patient.

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7
Q

are family members always a perfect match for stem cell transplant

A

NO
Family member donors are either a match or a haplo-match

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8
Q

what does a match mean, how is it determined and what is the criteria (give the numbers)

A

Match means at HLA loci

10/10 = full match
8 or 9/10 = mismatch
5/10 = half match (haplo)

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9
Q

what is the purpose of conditioning chemotherapy?

A

Suppress host (patient) immune system

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10
Q

what is the difference between graft vs host and graft vs tumour reaction

A

GvH
GvHD occurs when the donor’s immune cells attack the patient’s tissues, leading to various complications.
GvH is life-threatening

GvT
Donor T cells are capable of recognising residual leukemic cells and mounting an immune response against them
GvT is a beneficial effect

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11
Q

what is the first line of treatment for Graft vs Host disease

A

Corticosteroids –> lower immune response

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12
Q

what transports iron in the blood

A

transferrin

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13
Q

where is iron stored in

A

liver and reticulocytes

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14
Q

what is DIC, signs and symptoms, what tests would you run to diagnose it, and how would you treat it

A

Abnormal activation of coagulation pathways causes the formation of intravascular thrombi and depletion of platelets and clotting factors.

SIGNS AND SYMPTOMS:
petechiae
Purpura
ecchymosis (bruises)
coma/delirium
gangrene
hypotension
tachycardia

TESTS:
Low platelets
low fibrinogen
low PT
low aPPT reflecting low circulating clotting factors
D-dimer (elevated – fibrin breakdown products)

TREATMENT:
would give fresh frozen plasma for platelet transfusion and coagulation factor transfusion

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15
Q

what is tumour lysis syndrome

A

Oncological emergency which is a complication of cancer therapy. Caused by rapid breakdown of large numbers of cancer cells and subsequent release of intracellular contents (potassium, phosphate, nucleic acids) into the bloodstream which overwhelms normal homeostatic mechanisms.

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16
Q

what are symptoms of sickle cell disease

A

Sickle cell crisis - generalised pain
Anaemia
Frequent infections due to asplenia → loss of spleen function
Acute Chest Syndrome: sudden onset of chest pain, fever, and respiratory symptoms. It can be life-threatening and is often triggered by infection or infarction of the lung tissue. → very dangerous/high risk of mortality
Embolic events
Jaundice

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16
Q

what population is more common in sickle cell disease

A

More common in afro-Caribbean

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17
Q

what tests do you run in a patient that you suspect of sickle cell disease

A

FBC
Peripheral blood smear
Reticulocyte count
U&E
Sickle solubility test
X-ray to look for bone damage (avascular necrosis)
Hb separation –> ​​similar to haemoglobin electrophoresis, this test helps identify and quantify different types of haemoglobin.

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18
Q

how do you treat sickle cell crisis?

A

hydroxyurea –> increases foetal Hb
analgesia
folic acid supplements
blood transfusions
hydration
monitoring including transcranial dopplers → to check for stroke

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19
Q

how do you prevent sickle cell crisis

A

stay warm
stay hydrated
get your vaccinations and antibiotics
regular blood transfusions

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20
Q

what is the only curative option for sickle cell anaemia?

A

stem cell transplant

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21
Q

What sickle cell medical emergency is one of the most dangerous and one of the leading causes of death?

A

Acute chest syndrome

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22
Q

what is thalassaemia and what are the types

A

efficiency in the production of either alpha or beta globin chains
Abnormal alpha-globin gene → Alpha thalassemia
Abnormal beta-globin gene → Beta thalassaemia

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23
Q

what pattern of inheritance does thalassaemia have

A

recessive

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24
what are the treatments for thalassaemia?
Bone marrow transplant is the only curative option Regular blood transfusions for survival
25
what is the most common complication of thalassaemia? and why
iron toxicity because: the body does not have a natural mechanism to excrete excess iron → regular blood transfusions cause a gradual buildup of iron Ineffective Erythropoiesis: the body tries to compensate for ineffective rbc production by increasing iron absorption from the gastrointestinal tract Iron released from Hb during the breakdown of old rbc is not effectively recycled
26
what is the normal female haemoglobin
Female normal → 110-147g/l
27
what is the normal male haemoglobin?
Male normal → 131 – 166g/l
28
what are the causes of microcytic anaemia?
Iron deficiency Thalassaemia Vit C deficiency → Vit C helps absorb iron
29
where is iron absorbed?
duodenum and upper jejunum.
30
what are the different causes of iron deficiency?
assume blood loss until proven otherwise (ex.: gastrointestinal, menstrual) Pregnancy (500mg-1000mg transferred to foetus, body stores 4g) Impaired absorption; Coeliac Gastrectomy Dietary deficiency
31
what are signs of iron deficiency
Glossitis - Smooth tongue, loss of differentiation Brittle nails Koilonychia - spoon-shaped nails Angular stomatitis
32
what are the 1st line tests for iron deficiency anaemia?
BC: Low haemoglobin = anaemia <13.5g in males <12g in females MCH (Mean Corpuscular Hemoglobin) MCHC (Mean Corpuscular Hemoglobin Concentration) MCV - mean corpuscular volume (<80) blood smear (microcytic hypochromic rbcs)
33
how do you treat iron deficiency
Oral iron → ferrous sulphate 200mg one to three times daily OR IV iron → ferric gluconate iron rich diet
34
what are the general symptoms of anaemia
fatigue, pallor, shortness of breath, palpitations, chest pain, tachycardia, exertional dyspnoea
35
what is iron deficiency anaemia characterised as histologically?
Microcytic, hypochromic anaemia hypochromic = low haemoglobin
36
what are the gold standard tests for iron deficiency anaemia
Serum ferritin → LOW (diagnosis) Serum Iron → LOW Transferrin saturation (TSAT) → LOW → More transferrin is synthesised in iron deficiency but this measurement is expressed as the ratio between serum iron to TIBC → low serum iron will cause a decreased TSAT TIBC - Total Iron Binding Capacity → looks at all proteins which transfer iron in the blood, including transferrin bone marrow biopsy (absent iron storage)
37
what would you be worried about in a patient above 60 years old with iron deficiency? what test would you do
GI bleeding or malignancy endoscopy
38
what are the causes of normocytic anaemia? explain them
Chronic disease Renal disease Acute bleeding Reticulocytes - count gives information on turnover of RBCs Doping - exogenous EPO often cycling Kidney failure - reduction in EPO production -> leads to anaemia Glucose-6-phosphate dehydrogenase deficiency --> genetic condition which results in destruction of rbc
39
what are the causes of macrocytic anaemia?
Folate deficiency - B9 B12 deficiency (B12 also called cobalamin) Haemolysis → results when there are structural abnormalities in Hb production Bone marrow disorders
40
what are the functions of folate?
methylation reactions methionine synthesis DNA synthesis
41
what are the functions of B12
rbc synthesis DNA synthesis neuron synthesis
42
where is folate absorbed
proximal jejunum
43
what are the causes of folate deficiency
Poor nutrition (found in green vegetables, nuts, yeast; destroyed by cooking) Malabsorption → coeliac, Crohn's Pregnancy Haemolysis
44
where is B12 found
in animal-derived products; meat, fish, eggs, dairy.
45
what are causes of pernicious anaemia
autoimmune destruction of parietal cells or intrinsic factor gastrectomy/ ileal resection Vegan diet
46
what test do you do to diagnose pernicious anaemia?
IF antibodies
47
what is pernicious anaemia?
vitamin B12 deficiency specifically due to malabsorption of B12, not due to insufficient intake.
48
what are the causes of vit B12 deficiency?
Malnutrition gastric surgery (harms top parietal cells) chronic GI disease e.g., Chron’s pregnancy
49
key presentations of vit B12 deficiency
RBC related Lemon-yellow skin → excessive breakdown of macrocytic rbc due to pernicious anaemia Neuro related peripheral neuropathy and paraesthesia loss of vibration sense or proprioception mood or cognitive changes visual changes
50
what is ataxia
group of disorders that affect coordination, balance, and speech
51
1st line investigations for B12 deficiency
FBC peripheral blood smear
52
2nd line investigations for B12 deficiency
IF antibodies serum B12 gastric parietal cell antibody
53
how do you manage vit B12 deficiency
oral B12 if due to dietary deficiency if due to pernicious anaemia you need B12 (the problem is malabsorption) --> hydroxocobalamin injections 3 times weekly for 2 weeks
54
In combined B12 and folate deficiency which one is administered first: B12 or folate?
B12 because the consequences from B12 deficiency are worse so they need to be prioritised
55
compensated haemolysis vs decompensated haemolysis
Compensated haemolysis – increased rbc destruction matched by increased synthesis Decompensated haemolysis – rate of destruction exceeds rate of synthesis
56
what are causes of haemolysis
hereditary spherocytosis sickle cell Autoimmune haemolytic anaemias prosthetic heart valves Mismatched blood tranfusion Haemolytic disease of new born Paroxysmal Nocturnal Hemoglobinuria → abnormal haemolysis at night Lymphoproliferative disorders
57
what are the tests you do for haemolytic anaemia
Peripheral blood smear Reticulocyte count → elevated Bilirubin + unconjugated bilirubin (the result of excessive haemolysis) Lactate dehydrogenase Haptoglobin → protein that binds to free haemoglobin released from ruptured red blood cells → DECREASED levels in haemolytic anaemia cuz haptoglobin bound to Hb, not free-floating Direct antiglobulin test → Coomb's Test → looks at antibodies against rbc; diagnoses autoimmune haemolytic anaemia
58
what is autoimmune haemolytic anaemia, what size is the rbc (micro, normo or macrocytic anaemia)
normocytic/macrocytic --> it depends
59
what are the types of autoimmune haemolytic anaemia and explain the differences
Warm – haemolysis occurs at temperatures greater than or equal to core body temperature (37 degrees). Most common. IgG antibodies. Haemolysis tends to occur in extravascular sites (eg spleen) causes: idiopathic, viral infections, lymphomas, leukaemia, lupus Cold – haemolysis occurs at cold temperatures (0-10 degrees). Rare. IgM antibodies Haemolysis tends to occur in intravascular sites causes: leukaemia and lymphoma
60
key presentations of autoimmune haemolytic anaemia
Jaundice, hepatosplenomegaly, kidney damage which results in reduced urine output
61
1st line test for autoimmune haemolytic anaemia
peripheral blood smear FBC normocytic anaemia increased reticulocytes increased lactate dehydrogenase increased bilirubin
62
what is the gold standard test for autoimmune haemolytic anaemia?
Direct coombs test: detect antibodies bound to RBC surface
63
how do you manage autoimmune haemolytic anaemia
Blood transfusions, prednisolone (steroids), rituximab (monoclonal antibody against B cells), splenectomy Cold autoimmune haemolytic anaemia responds less well to steroids
64
what is aplastic anaemia
Pancytopenia – all blood cell lines are decreased (anaemia, leukopenia, thrombocytopenia). Bone marrow fails and stops making haematopoietic stem cells. Normocytic, not-haemolytic (fewer RBCs than normal)
65
what is the cause of aplastic anaemia
Idiopathic. Autoimmune destruction of haematopoietic stem cells
66
what are the clinical manifestations, investigations, and management options for aplastic anaemia
fatigue pale (no more rbc) bleeding petechiae recurrent infection tests: FBC Bone marrow biopsy Management: stem cell transplant under 50yr old immunosuppressive therapy and blood transfusions over 50yr
67
what is polycythemia
Proliferation of the erythrocyte cell line. Increase in RBC count and haematocrit
68
primary vs secondary polycythemia
PRIMARY - polycythemia vera overproduction of red blood cells, white blood cells, and platelets in the bone marrow. SECONDARY occurs as a result of an underlying condition or external factor that stimulates the body to produce more red blood cells Chronic hypoxia COPD Certain kidney diseases --> erythropoietin dehydration
69
what causes polycythemia vera
JAK2 mutation
70
presentation of polycythemia
Conjunctival plethora (excessive redness of conjunctiva) Splenomegaly “ruddy” complexion (like sunburn) itching skin, especially after warm water erythromelalgia (burning sensation in fingers and toes)
71
what is the 1st line investigation for polycythemia vera?
FBC (raised Hb, haematocrit, WCC, platelets) low erythropoietin → PV is driven by a mutation (JAK2 mutation) that results in the continuous stimulation of hematopoietic cells in the absence of the usual regulatory mechanisms. As a result, the production of red blood cells is increased independent of the body's oxygen needs. Despite the increased red blood cell production, the kidneys sense the higher red blood cell count and appropriately suppress the production of erythropoietin to avoid further stimulation of erythropoiesis.
72
what is the gold standard investigation for polycythemia vera
Genetic testing (JAK2 mutation)
73
what are the complications of polycythemia vera
Risk of clotting (stroke, MI, PE, Budd Chiara – liver clot), progression to acute myeloid leukaemia
74
what are thrombocytopenias
Deficiency of platelets in bloods
75
what are the causes of thrombocytopenias?
Reduced platelet production in BM - malignancies Excess peripheral destruction of platelets - viral infections Problems of enlarged spleen
76
what are the 2 types of thrombocytopenias?
Immune thrombocytopenic purpura (ITP) Thrombotic thrombocytopenic purpura (TTP)
77
which type of thrombocytopenia is more common
Immune thrombocytopenic purpura (ITP)
78
what type of antibodies are responsible for immune thrombocytopenic purpura
IgG
79
clinical presentation of thrombocytopenia
Easy bruising Purpura – red or purple spots on skin caused by bleeding underneath Epistaxis – nose bleed Menorrhagia Gum bleeding
80
what is epistaxis
nose bleed
81
what are the investigations and treatment for immune thrombocytopenic purpura?
Investigations: FBC Thrombocytopenia – low levels of platelets Bone marrow biopsy - Increased megakaryocytes May have detection of platelet autoantibodies Treatment: Corticosteroids i.e. prednisolone (1st line treatment) → to suppress immune response Splenectomy (2nd line treatment) IV Immunoglobin e.g. IV IgG
82
what is the cause of Thrombotic thrombocytopenic purpura (TTP)
ADAMTS 13
83
what are the 2 types of haemophilia and what are they caused by what is the pattern of inheritance
X linked inherited severe bleeding disorders. Haemophilia A is caused by deficiency in factor VIII Haemophilia B is caused by deficiency in factor IX (aka Christmas disease)
84
what are the key presentations for haemophilia
Spontaneous bleeding, easy bruising (ecchymosis), hematomas, prolonged bleeding after trauma or surgery, hemarthrosis (bleeding into joint spaces), epistaxis (nose bleeds), GI bleeding, bleeding from brushing teeth, haematuria, bleeding into muscles
85
1st line and gold standard investigations for haemophilia + management of the 2 types of haemophillia
1st line Normal prothrombin time, prolonged activated partial thromboplastin time, FBC (usually normal, low Hb from bleeding), VWF (normal) Gold Standard Plasma factor VIII and IX assay (decreased or absent VIII – haem. A, IX – haem. B) TREATMENT: 1st line Haemophilia A – factor VIII injection, desmopressin (stimulates VWF, boosts VIII activity) 1st line Haemophilia B – factor IX injection. Also: antifibrinolytic (tranexamic acid).
86
what is VON WILLEBRAND DISEASE?
Most common inherited cause of abnormal bleeding (haemophilia) due to deficiency, absence, or malfunction of Von Willebrand factor. more common in females
87
what is Glucose-6-phosphate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase deficiency is a genetic condition which leads to the destruction of RBCs. normocytic and haemolytic anaemia