Clinical Haematology Flashcards

Question

What is the hereditary pattern for sickle cell disease?

Answer 1

Autosomal recessive

Answer 2

Hypoxia Dehydration Acidosis Infection

Answer 3

Howell-Jolly body | And sickle cells

Answer 4

Acute painful crisis Stroke Sequestration crisis Chronic cholecytisis

Answer 5

``` Saturate with supportive oxygen Antibiotics (if needed) Pain relief Cannula (IV fluids) Crizanlizumab for prevention ```

Answer 6

Hb electrophoresis and blood film

Answer 7

Vaccinations Hydroxyurea Hydroxycarbamide Prophylactic ABx

Answer 8

Bone marrow transplant (curative)

Answer 9

``` Haemolytic anaemia Dactylitis Acute chest syndrome Pripaism Aplastic crisis ```

Answer 10

Folate or B12 deficiency

Answer 11

Hypersegmented neutrophils

Answer 12

Alcohol IBD and coeliac disease Pernicious anaemia

Answer 13

Alcohol IBD & coeliac Anti-folate drugs Pregnancy

Answer 14

Glove and stocking paraesthesia Hyporeflexia Romberg's positive Subacute degeneration of the spinal cord

Answer 15

Anti-parietal cells | Anti-intrinsic factor

Answer 16

Myelodysplasia Hypothyroidism Liver disease Alcohol

Answer 17

GI blood loss from hookwork infections Reduced absorption (Small bowel disease) Increased demands Reduced intake

Answer 18

Hepcidin - Suppresses iron absorption and transport

Answer 19

``` Tiredness Lethargy Malaise Dyspnoea Pallor Palpitations Exacerbations of ischaemic conditions ```

Answer 20

``` Anorexia Nausea/vomiting Abdominal pain Constipation Peripheral nerve lesions ```

Answer 21

``` Thalassemia Anaemia of chronic disease Iron deficiency anaemia Lead poisoning Sideroblastic anaemia ```

Answer 22

Glossitis Angular stomatitis Pallor Koilonychia

Answer 23

Blue gumline Peripheral nerve lesions (causing wrist or foot drop) Convulsions Reduced consciousness

Answer 24

Ferritin is low in IDA

Answer 25

Is an acute phase protein

Answer 26

High in IDA

Answer 27

Microcytic anaemia Hypochromic Anisocytosis Poikilocytosis

Answer 28

Dimorphic blood film Hypochromic microcytic cells Ring sideroblasts in the bone marrow

Answer 29

Basophilic stippling

Answer 30

Ferrous sulphate

Answer 31

* Treat underlying cause * Pyridoxine used in inherited forms * Blood transfusions and iron chelation can be considered if there is no response to other treatments.

Answer 32

* Remove the source * Dimercaprol * D-penicillamine

Answer 33

High-output cardiac failure

Answer 34

Acute blood loss - peptic ulcer, trauma, oesophageal varices Failure of RBC production Haemolysis Uncompensated increase in plasma volume Hypersplenism

Answer 35

Anaemia is associated with an elevated MCV of erythrocytes (>100 fL in adults). Megaloblastic refers to a delay in the maturation of the nucleus while the cytoplasm continues to mature. • Structurally abnormal, immature red cells (Oval macrocytes).

Answer 36

- Azathioprine - Methotrexate (Dihydrofolate reductase inhibitor) - Hydroxyurea - Zidovudine

Answer 37

• Vitamin B12/Folate deficiency • Use of drugs interfering with DNA synthesis: - Azathioprine - Methotrexate (Dihydrofolate reductase inhibitor) - Hydroxyurea - Zidovudine • Liver disease and ethanol toxicity • Haemolytic anaemia (Reticulocytosis increased) • Myelodysplasias

Answer 38

Folic acid | B12 deficiency

Answer 39

• B12 is required for DNA synthesis and the integrity of the nervous system.

Answer 40

Terminal ileum

Answer 41

Intrinsic factor

Answer 42

Inadequate diet veganism Gastrectomy - Autoimmune -Pernicious anaemia Crohn's disease - Ileal resection Dietary: Poverty alcoholism ``` Malabsorption • Coeliac disease Jejunal resection Pregnancy Lactation ``` Increased cell turnover: Haemolysis Poverty alcoholism

Answer 43

Hydroxocobalamin injections (IM)

Answer 44

Pernicious anaemia

Answer 45

Mild jaundice Glossitis (Beefy) Angular stomatitis Weight loss Signs of anaemia - Pallor - Tachycardia - Breathlessness

Answer 46

Peripheral neuropathy Ataxia Subacute combined degeneration of the spinal cord Optic atrophy Dementia Positive Babinski's sign - absent ankle reflex, upwards plantars

Answer 47

High MCV, low haematocrit Serum B12 and folate Red cell folate Anti-parietal cell and anti-intrinsic factor antibodies

Answer 48

• Anti-parietal cell and anti-intrinsic factor antibodies

Answer 49

* Megaloblasts (Large with nucleocytoplasmic dissociation) | * Hypersegmented polymorphonucleated cells

Answer 50

• Dietary supplements – PO cyanocobalamin

Answer 51

Oral folic acid

Answer 52

• If B12 deficiency is present – Treated prior to the folic acid deficiency as B12 is required for folate uptake.

Answer 53

To prevent spina bifida

Answer 54

Gastric carcinoma

Answer 55

Increases risk of neural tube defects - Spina bifida

Answer 56

Intravascular and extravascular

Answer 57

Occurs in circulation to damaged RBCs

Answer 58

Occurs in the reticuloendothelial system (Macrophages of the liver, spleen and bone marrow remove defective RBCs)

Answer 59

Spherocytosis | Elliptocysosis

Answer 60

G6PD deficiency | Pyruvate kinase deficiency

Answer 61

Sickle cell anaemia

Answer 62

Autoimmune hamolytic anaemia

Answer 63

Penicillin | Quinine

Answer 64

Caused by RBC fragmentation in abnormal microcirculation - intravascular -Haemolytic anaemia in which red blood cells lyse due to shear forces encountered as they pass through small blood vessels

Answer 65

Direct antiglobulin test (DAT)

Answer 66

``` Low Hb High reticulocytes High MCV High unconjugated Low haptogloblin Raised serum LDH ```

Answer 67

Hypochromic microcytic anaemia

Answer 68

Schistocytes

Answer 69

Heinz cells

Answer 70

Splenic hypertrophy and splenomegaly

Answer 71

Increased plasma Hb Methaemalbuminaemia Decreased plasma haptoglobin

Answer 72

Glucose-6-phosphate dehydrogenase deficiency is a form of haemolytic anaemia that results from an inability of red cells to generate glutathione.

Answer 73

X-linked recessive

Answer 74

Lumps of denatured precipitated haemoglobin within red cells are a marker of oxidative damage

Answer 75

Oxidative drugs Broad means Antimalarial drugs

Answer 76

``` Jaundice Pallor Dark urine Nausea Gallstones are common ```

Answer 77

Supportive care + folic acid | Blood transfusion for severe anaemia (Haemoglobin)

Answer 78

A condition where erythrocytes incompletely form haem resulting in iron deposits within the mitochondria - forming a ring around the nucleus called a ring sideroblast

Answer 79

Ring sideroblast

Answer 80

Myelodysplasia Alcohol Lead Anti-tb - Isoniazid

Answer 81

High ferritin High iron High transferrin saturation

Answer 82

Prussian blue staining will show ringed sideroblasts

Answer 83

X-linked recessive disorder

Answer 84

Factor VIII

Answer 85

In haemophilia, there is a failure to generate fibrin to stabilise the platelet plug. Both factors 8 and 9 play a role in the intrinsic coagulation pathway.

Answer 86

Hemarthrosis- the spontaneous bleeding of the joints and msk bleeding.

Answer 87

Intramuscular injections - can lead to extensive haematoma

Answer 88

Spontaneous/recurrent bleeding in joints and muscles, excessive bleeding after surgery, dental procedures or trauma Recurrent nasal bleeding and easy bruising Bleeding into muscles - erythema, warmth, decreased range of motion -High pressure can lead to nerve palsies and compartment syndrome -Prolonged bleeding following heel prick Mucocutaneous bleeding - Epistaxis, bleeding from the gums, and easy bruising Haemarthrosis Fatigue Menorrhagia

Answer 89

Prolonged APTT

Answer 90

APTT | Plasma factor VIII and IX assay - decreased or absent factor 8 and 9 levels

Answer 91

Factor concentrate

Answer 92

Disseminated intravascular coagulation is an acquired disorder of the clotting cascade characterised by the activation of the coagulation cascade resulting in the formation of intravascular thrombi and depletion of platelets and coagulation factors

Answer 93

Major trauma Organ destruction Sepsis severe infection

Answer 94

The release of fibrin degradation products into circulation interferes with platelet aggregation and clot formation. • Consumption coagulopathy – Depletion of platelets, fibrin, and coagulation factors – associated with thrombocytopenia and raised D-dimer.

Answer 95

Pre-eclampsia Obstetric haemorrhage Retained dead foetus Amniotic embolic

Answer 96

Systemic signs of circulatory collapse -Oliguria, hypotension, tacycardia -Confusion, Dyspnoea, evidence of bleeding Examiantion - Petechiae, purpura, ecchymoses - Epistaxis - Mucosal bleeding - Overt haemorrhage - Signs of end-organ damage - Respiratory distress - Oliguria due to renal failure

Answer 97

Reduced platelets Reduced fibrinogen Increased PT and APTT Increased fibrinogen degradation products (D-dimer)

Answer 98

Fresh-frozen plasma - reduced clotting factors, consider cryoprecipitate, or fibrinogen concentrates as second-line Platelet transfusion if platelet count <30,000 oxygen and fluids

Answer 99

Von Willebrand disease is an inherited bleeding disorder (autosomal dominant), and characteristically behaves as a platelet disorder (Epistaxis and menorrhagia – Superficial bleeding).

Answer 100

Autosomal dominant

Answer 101

A multimeric glycoprotein that is synthesised by endothelial cells and megakaryocytes circulating in the plasma -Mediates adhesion of platelets to the site of injury - promoting platelet-platelet aggregation by binding onto the glycoproteiin-1b receptor

Answer 102

To bring platelets into contact with exposed sub-endothelium To facilitate platelet-platelet aggregation To bind to factor VIII and protect it from degradation

Answer 103

Partial quantitative deficiency

Answer 104

VWF with an abnormal function

Answer 105

Severe quantitative deficiency (Complete + Autosomal recessive).

Answer 106

``` Easy bruising (Ecchymosis) Epistaxis (Prolonged >20 minutes) Prolonged bleeding from gums Menorrhagia ``` There is spontaneous mucosal and cutaneous bleeding

Answer 107

Factor VIII

Answer 108

APTT is prolonged PFA-100 test Defective platelet aggregation with ristocetin

Answer 109

DDAVP (desmopressin)

Answer 110

Thalassemia is a group of genetic disorders characterised by reduced globin chain synthesis – There is under or no production of one globin chain. • Unmatched globins precipitate  Damaging RBC membranes causing their haemolysis. • Autosomal recessive

Answer 111

Asymptomatic Mild microcytic anaemia Increased red cell count

Answer 112

Associated with an accumulation of iron - raised serum iron, ferritin and low TIBC

Answer 113

* Severe anaemia (Shortness of breath, fatigue, dizziness, malaise) * Presenting at 3-6 months: This is when the change from HbF to HbA takes place. * Failure to thrive- Growth retardation * Prone to infection * Abdominal distension due to hepato-splenomegaly * Large head with frontal and parietal bossing * Chipmunk facies * Mis-aligned teeth * Bone pain and fragility * Cardiac failure and arrhythmias – Secondary to anaemia and iron overload.

Answer 114

``` Hypochromic microcytic anaemia Target cells Howell-jolly bodies Nucleated red cells High reticulocyte count ```

Answer 115

Hb electrophoresis - Absent or reduced HbA - High HbF

Answer 116

Hair on end appearance - caused by expansion of marrow into the cortex

Answer 117

Regular transfusion | Iron monitoring and chelation (desferrioxamine) to reduce iron overload toxicity

Answer 118

The autosomal recessive single-gene defect

Answer 119

In the deoxygenated state  HbS undergoes polymerisation – sickle shape = Fragile shape and haemolyse. • The abnormal shape of erythrocytes induces microcirculation clotting – precipitating as a vaso-occlusive crisis leading to ischaemic of vital organs and pain. • Sequestration and destruction (Reduced red cell survival ~ 20 days) • Occlusion of small blood vessels causes hypoxia, which leads to further sickling.

Answer 120

Infection Dehydration Hypoxia Acidosis

Answer 121

Auto-splenectomy (Splenic atrophy or infarction) Sickle cells sequester within the spleen, undergoing reticular endothelial phagocytosis  Extravascular haemolysis. • Splenic congestion arises + splenomegaly • Compensated spleen reduces the immune function and individuals are more prone to bacteriaemia. Abdominal pain due to mesenteric ischaemia Bones • Painful crises affect small bones of the hands and feet causing dactylitis in children. • Affect the ribs, spine, pelvis, and long bones in adults • Avascular necrosis Myalgia and arthralgia Leg ulcers Low flow priapism CNS • Fits, and strokes + cognitive defects ``` Sequestration crisis Sequestration crises occur because of multi-organ erythrocyte pooling (predominantly the spleen) – affects children as the spleen has not undergone atrophy. • Liver – Exacerbation of anaemia • Lungs – Acute chest syndrome - Breathlessness - Cough - Pain - Fever ``` Corpora cavernosa • Persistent painful erection (priapism) • Impotence Symptoms of aplastic anaemia • Due to parvovirus B19 with a sudden reduction in marrow production, especially RBCs.

Answer 122

* Bone: Joint or muscle tenderness or swelling (Avascular necrosis) * Short digits – Due to infarction in small bones of the hands * Retina- Cotton wool spots due to retinal ischaemia

Answer 123

Howell-Jolly bodies

Answer 124

Haemoglobin electrophoresis - HbS, absence of HbA | High HbF

Answer 125

``` Oxygen IV fluids Strong analgesia ABx Cross-match blood Transfusion ```

Answer 126

Penicillin V | Regular vaccinations

Answer 127

* Hydroxycarbamide/Hydroxyurea – If frequent crises  Increase foetal haemoglobin concentrations. * Reduces the frequency and duration of sickle cell crisis.

Answer 128

Bone marrow transplantation

Answer 129

Aplastic crisis

Answer 130

Characterised by an increase in haemoglobin concentration (haematocrit) beyond the upper limit of normal

Answer 131

Normal red cell mass, low plasma volume. There is a falsely elevated haemoglobin concentration. - Excessive diuretic use - Dehydration

Answer 132

Excess erythrocytosis independent of erythropoietin (EPO).

Answer 133

Excess red blood cell production driven by excess EPO (Secondary to an appropriate rise in EPO – Chronic hypoxia (COPD, high altitude) or para-neoplastic (inappropriate secretion).

Answer 134

* Characterised by clonal proliferation of myeloid cells * Varied morphologic maturity and haemopoietic efficiency * Mutations in JAK2 tyrosine kinase are involved.

Answer 135

Increase in EPO production Appropriate increase -Due to chronic hypoxia (Chronic lung disease, living at high altitude) Inappropriate increase - Renal (Carcinoma, cysts, hydronephrosis) - Hepatocellular carcinoma - Fibroids - Cerebellar haemangioblastoma

Answer 136

``` Headaches Dyspnoea Tinnitus Blurred vision Pruritus Erythromelalgia Night sweats Thrombosis Pain from peptic ulcder disease Angina Gout ```

Answer 137

* Plethoric complexion (red). * Scratch marks from itching. * Conjunctival suffusion (redness of the conjunctiva). * Retinal venous engorgement * Hypertension * Splenomegaly * Signs of underlying aetiology

Answer 138

FBC • High Hb • High haematocrit • Low MCV Isotope Dilution Techniques • Allows confirmation of plasma volume and red cell mass • Distinguishes between relative and absolute polycythaemia ``` Polycythaemia Rubra Vera • High Hb, RCC, HCT, PCV • High WCC • High platelets • Low serum EPO • JAK2 mutation • Bone marrow trephine and biopsy  erythroid hyperplasia and raised megakaryocytes. ``` Secondary Polycythaemia • High serum EPO • Exclude chronic lung disease/hypoxia • Identify for EPO-secreting tumours

Answer 139

Address factors that may lead to reduced plasma volume – Smoking, alcohol consumption, obesity and hypertension (Relative). Secondary: • Phlebotomy • Low dose aspirin Cytoreductive therapy – Hydrocarbamide

Answer 140

A malignant proliferation of lymphocytes originating from the lymph nods or lymphoid tissues

Answer 141

Lymph nodes and lymphoid tissues

Answer 142

Reed-Sternberg cells

Answer 143

``` Affected sibling EBV SLE Post-transplantation Westernisation Obese ```

Answer 144

* Bimodal age distribution with peaks at 20-30 years and >50 years. * Males (2:1)

Answer 145

Lymphadenopathy- Enlarged, painless, non-tender, superficial. • Cervical and supraclavicular nodal chain. • Mass becomes painful after alcohol ingestion • Mediastinal lymph node involvement can cause mass effects e.g., bronchial/SVC obstruction. B symptoms of Lymphoma (Systemic) • Fever >38 degrees – Cyclical = Pel-Ebstein fever • Night sweats • Weight loss > 10% body weight in the past 6 months. Other symptoms • Pruritus • Cough • Dyspnoea

Answer 146

Enlarged, painless, non-tender and superficial Cervical and supraclavicular node chain

Answer 147

Fever >38 degrees, cyclical Night sweats Weight loss

Answer 148

``` High WCC Leucocytosis High neutrophils High eosinophils Lymphopenia in advanced disease Raised ESR CRP LDH ```

Answer 149

Lymph node biopsy revealing Reed-Sternberg cells

Answer 150

Chemotherapy - doxorubicin, bleomycin, vinblastine

Answer 151

Malignancies of lymphoid cells originating in the lymphoid tissues -Does not include Reed-Sternberg cells

Answer 152

B-Cell derived | -Aggressive and associated with HepC

Answer 153

• Painless enlarging mass in the neck, axilla, or groin – superficial lymphadenopathy. ``` Systemic symptoms • Fever • Night sweats • Weight loss >10% body weight • Symptoms of hypercalcaemia ``` ``` Symptoms related to organ involvement • Extranodal disease is more common in NHL • Skin rashes • Headache • Sore throat • Abdominal discomfort • Testicular swelling ```

Answer 154

Mycosis fungoides

Answer 155

Acute myeloid leukaemia is characterised as a malignancy of primitive myeloid lineage white blood cells (myeloblasts) with proliferation in the bone marrow and blood

Answer 156

Defective maturation of myeloid cells, and an accumulation of blasts. • Blast % increases with disease progression.

Answer 157

Auer rods | Blasts

Answer 158

* Ionising Radiation, MPD/MPS, cancer therapy (alkylating agents), chemotherapy. * Down’s syndrome (Chromosome 21)

Answer 159

Myeloblasts undergo malignant transformation and proliferation. • Replacement of normal marrow and bone marrow failure. • Mutation of transcription factors.

Answer 160

* Anaemia (Lethargy, dyspnoea, pallor) * Bleeding (Due to thrombocytopenia) * Opportunistic or recurrent infections (Neutropenia) * Bone pain * Splenomegaly

Answer 161

* Low Hb, low platelets, variable WCC * High uric acid * High LDH * Clotting studies: Fibrinogen, and D-dimers (identify for DIC)

Answer 162

* Myeloblasts * Auer rods * Bilobed nucleus/indented nucleus

Answer 163

Induction chemotherapy - Cyarabine - Idarubicin

Answer 164

Stem-cell and bone marrow transplant

Answer 165

Acute lymphocytic leukaemia

Answer 166

ALL is the most common malignancy affecting children and accounts for 80% of childhood leukaemia. A malignancy of the bone marrow is characterised by the proliferation of lymphoblasts (primitive lymphoid cells). • Peak incidence is 2-5 years of age.

Answer 167

Lymphoblasts

Answer 168

Methotrexate

Clinical Haematology Flashcards

(197 cards)