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3A > Paeds - Haematology > Flashcards

Paeds - Haematology Flashcards

1
Q

Sickle cell anaemia aetiology

A

Most common in blacks

Autosomal recessive - Chromosome 11

GLUT - VAL change in B-chain of Hb
Abnormal Hb chain - HbS
Hypoxic conditions - HbS polymerises
Becomes sickle shaped - Occludes vessels

Sickled cell life span = 30 days

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2
Q

Sickle cell triggers

A 
Deoxygenation after exercise or exertion
Dehydration 
Infection 
Cold weather 
Stress
Alcohol
Smoking
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3
Q

Sickle cell presentations

A

6-12 months

Painful/thrombotic crisis 
Acute chest syndrome 
Aplastic crisis - Parvo B19 
Sequestration crisis 
Haemolytic crisis
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4
Q

Painful/thrombotic crisis

A

Lots of Hb deoxygenated at once
- Cold, dehydration, hypoxia

Lots of sickling - Occlusion of small vessels

Severe pain 
AVN - Bone marrow 
Swollen joints 
Dactylitis 
Acute abdomen - Mesenteric ischaemia
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5
Q

Acute chest syndrome

A

Vaso-occlusive crisis in the lungs

Pain
Dyspnoea
Cough
Fever

XR - New pulmonary infiltrate

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6
Q

Aplastic crisis

A

Parvo B19 infection

Anaemia

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7
Q

Sequestration crisis

A

Splenomegaly

Hb - LOW
Reticulocytes ^

Circulatory collapse - Shock

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8
Q

Haemolytic crisis

A

Anaemia

Jaundice

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9
Q

Sickle cell - Additional S/S

A

Anaemia
Jaundice
Splenomegaly

Priapism

Infection

  • Strep pneumonia
  • HiB
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10
Q

Sickle cell investigations

A

Prenatal diagnosis - Chorionic villous sampling

Screening - Guthrie heel prick test

Hb electrophoresis

  • HbSS
  • HbF ^

FBC - Anaemia
Increased production in BM - Reticulocytes ^

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11
Q

Haemolytic anaemia diagnosis

A

RBC - LOW

Reticulocytes ^

Unconjugated bilirubinaemia
Urinary urobilinogen

Blood film - Sickled or spherocytes

Positive Coombs test!

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12
Q

Sickle cell long-term management

A

Vaccinations - Flu + Pneumococcal + Hep B

Prophylaxis - Oral penicillin

Oral folic acid

Desferroxamine - Iron chelation if repeated transfusion

Hydroxycarbamide - Increases HbF

Annual transcranial USS

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13
Q

Sickle cell painful crisis management

A 
Analgesia 
Abx 
O2 
Fluids 
Blood transfusion
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14
Q

Acute chest syndrome management

A 
Oxygen 
Chest physio 
NIV or I+V 
Antibiotics 
Transfusion
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15
Q

Priapism management

A 
Fluids
Oxygen 
Analgesia 
Gentle exercise 
Bladder emptying 
Warm bath

Aspiration and irrigation of corpora cavernosa with adrenaline

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16
Q

Sickle cell complications

A 
Chronic pain 
Pulmonary HTN - Cor pulmonale 
Stroke 
Infection 
Gallstones 
Retinopathy 
AVN - Femoral head
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17
Q

B-Thalassaemia

A

Autosomal recessive

Hypochromic
Microcytic

Major - No HbA
Minor - Low HbA

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18
Q

B-Thalassaemia electrophoresis

A

HbF ^
HbA2 ^

Beta chains - ABSENT

Major - No HbA
Minor - Low HbA

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19
Q

B-Thalassaemia presentation

A

Jaundice
Anaemia - Transfusion dependent from 3-6 months
FTT

Hepatosplenomegaly

Delayed puberty

Facial

  • Maxillary overgrowth
  • Skull bossing
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20
Q

B-Thalassaemia management

A

Regular transfusions

IRON CHELATING AGENT - DESFERRIOXAMINE

BM transplant

Genetic counselling

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21
Q

A-Thalassaemia

A

1 or 2 alpha chains affected

  • Hypochromic microcytic
  • Normal Hb

3 alpha chains affected - HbH disease
- Hypochromic microcytic
- Anaemia
Splenomegaly

4 alpha chains affected - Major

  • Death in utero - Mid-trimester
  • Hydrops fetalis

Diagnosis - Hb electrophoresis
Management - Monthly intrauterine transfusions

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22
Q

Haemophilia

A

X-linked recessive

A - Factor 8 deficiency
B - Factor 9 deficiency

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23
Q

Haemophilia presentation

A

40% present in neonatal period

  • Intracranial haemorrhage
  • Bleeding after circumcision
  • Heel-prick oozing

Bleeding into joints - Haemoarthrosis
Bleeding after dental work
Bleeding after surgery
Haematomas

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24
Q

Haemophilia management

A

A - Factor 8
B - Factor 9

FFP

Avoid NSAIDS

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25
Immune thrombocytopenic purpura | Aetiology and presentation
Post-strep infection Immune destruction of platelets by IgG 2-10 years 1-2 weeks post-viral infection - Petechiae - Splenomegaly - Mucosal bleeds - Gums and epistaxis
26
ITP management
Self-limiting 1-2 weeks Avoid contact sports Avoid NSAIDS Chronic - Rituximab Splenectomy
27
Von-Willebrands inheritance
Autosomal dominant Most common inherited bleeding disorder
28
Von-Willebrands factor
Large glycoprotein Promotes platelet adhesion to damaged endothelium Carrier molecule for factor 8
29
VWD presentation
Bruising Bleeding Epistaxis
30
VWD types
1. Partial reduction - Most common 2. Abnormal form 3. Total lack - AR inheritance
31
VWD investigations
Bleeding time ^ APTT ^ Factor 8 - LOW
32
VWD management
Desmopressin Tranexamic acid if bleeding Factor 8
33
G6PD deficiency inheritance
X-linked recessive Mediterranean Africa Middle-East
34
G6PD deficiency pathophysiology
G6PD is an enzyme of the pentose phosphate pathway Pentose phosphate pathway maintains level of NADPH NADPH maintains levels of glutathione Glutathione protects red cells from oxidative stress
35
G6PD triggers
Drugs - Anti-malarials - Ciprofloxacin - Nitrofurantoin - Sulphonamides Infection FAVA BEANS!
36
G6PD presentation
Neonatal jaundice Intravascular haemolysis - Dark urine - Fever - Back pain - Malaise Gallstones Splenomegaly
37
G6PD investigations
Blood film - Bite and blister cells - Hemi ghosts - Heinz-bodies
38
Hereditary spherocytosis
Autosomal dominant Haemolytic anaemia Northern european Mutation in gene for RBC membrane RBC loses part of membrane Becomes spheroidal Destroyed in spleen
39
Hereditary spherocytosis presentation
Chronic ``` Anaemia Neonatal jaundice Gallstones Splenomegaly Aplastic crisis - Parvo B19 ```
40
Hereditary spherocytosis investigations
Blood film - Spherocytes Osmofragility test
41
Hereditary spherocytosis management
Oral folic acid Splenectomy Transfusion Desferrioxamine
42
Petechiae DDx
``` ALL HSP ITP Meningococcal septicaemia DIC SLE ```
43
Long-term transfusion problems
Iron overload - GIVE DESFERRIOXAMINE - Cardiomegaly - Liver cirrhosis - Diabetes Infection - Less common now due to screening Antibody formation
44
Where does cell production take place
Fetal - liver | Post-natal - BM
45
Hb concentration
Highest at birth Lowest at 2 months HbF gradually replaced during infancy
46
Anaemia in neonates
< 140
47
Anaemia in 1-12 months
< 100
48
Anaemia in 1-12 years
< 110
49
Causes of neonatal anaemia
Decreased production Decreased lifespan - Haemolysis Changover to HbA ^ Plasma = Dilution
50
Anaemia in newborns
Erythroblastosis fetalis
51
Inherited aplastic anaemias
Fanconi anaemia | Shwachman-Diamond syndrome
52
Fanconi anaemia
Autosomal recessive Bone marrow failure Congenital abnormalities - Short stature - Abnormal radii and thumbs - Renal malformations Diagnosis - Increased chromosomal breakage of peripheral blood lymphocytes Management - BM transplant
53
Shwachman Diamond syndrome
Autosomal recessive Bone marrow failure Pancreatic exocrine failure Skeletal abnormalities Isolated neutropenia Pancytopenia
54
Iron deficiency pathophysiology
Ineffective erythropoiesis - Microcytic - Hypochromic
55
Iron deficiency causes
Inadequate intake Malabsorption Blood loss
56
Iron deficiency features
``` Fatigue Slow feeding Signs of malabsorption Blood loss Conjunctival pallor Behavioural and intellectual difficulties ```
57
Iron deficiency diagnosis
Blood film - Microcytic - Hypochromic Ferritin - LOW
58
Iron deficiency management
Dietary advice Ferrous sulphate
59
Red cell aplasia
Congenital red cell aplasia - Diamond Blackfan Transient erythroblastopenia Parvovirus B19
60
Congenital red cell aplasia
Diamond blackfan 2-3 months anaemia Short stature Abnormal thumbs Management - Steroids - Transfusion
61
Transient erythroblastopenia
Triggered by viral infections | Recovery within several weeks
62
Parvovirus B19
Causes red cell aplasia in children with inherited haemolytic anaemia
63
Red cell aplasia diagnosis
Reticulocytes - LOW Bilirubin - NORMAL Negative coombs test Absent red cell precursors in bone marrow
64
Coombs test
Tests for autoimmune haemolytic anaemia
65
Sickel cell long-term problems
``` Short stature Delayed puberty Stroke Cognitive problems Adenotonsillar hypertrophy Cardiac enlargement - HF Renal dysfunction Pigmented gallstones Psychosocial problems ```
66
Desmopressin
Stimulates the release of factor 8 and VWF Water retention - Risk of hyponatraemia
67
Vitamin K deficiency
Factors 2,7,9,10 Inadequate intake Malabsorption Antagonists - Warfarin
68
Disseminated intravascular coagulation
Coagulation pathway activation Fibrin deposition in microvasculature Usage of coag factors and platelets Usually due to severe sepsis or shock
69
DIC features
Bruising Purpura Haemorrhage
70
DIC diagnosis
``` Thrombocytopenia PT ^ APTT ^ Fibrinogen - LOW D-DIMER ^ Reduction in naturally occurring anticoagulants ```
71
DIC management
Cryoprecipitate Platelets ABC IV fluids
72
Thrombosis in children
Congenital - Thrombophilia - Protein C deficiency - Protein S deficiency - Antithrombin deficiency - Factor V leiden - Resistant to degradation by protein C Acquired - DIC - Hypernatraemia - Polycythaemias - SLE - Persistent antiphospholipid antibody syndrome
73
ALL types
Common - 75% T-cell only - 20% B-cell only - 5%
74
ALL epidemiology
Males | 2-5 years
75
ALL poor prognostic factors
``` Male Philadelphia chromosome < 2 > 10 WCC > 20 ```
76
ALL aetiology
Down syndrome Philadelphia chromosome - 22 Ionising radiation
77
ALL presentation
1. Bone marrow infiltration - Bone pain - RBCs - SOB, lethargy, pallor - Platelets - Bruising, petechiae 2. Hepatosplenomegaly 3. Organ infiltration - Painless testicular enlargement - Neuro - CNS palsies and papilloedema
78
ALL investigations
Bloods - RBC - LOW - WCC ^ - Neutrophils - LOW U/E - Urea ^ - Creatinine ^ CXR/MRI - Mets Bone marrow biopsy LP - Pleocytosis
79
ALL management
Induction - Vincritine - Dexamethasone Consolidation - Doxorubicin Maintenance - Methotrexate
80
ALL complications
Neutropenic sepsis - Tazocin Hyperuricaemia - Allopurinol Secondary cancers Stunted growth
81
Hodgkin's lymphoma
Reed Sternberg cells
82
Hodgkin's lymphoma presentation
Painless lymphadenopathy B symptoms Abdo mass
83
Hodgkin's lymphoma investigations
CT PET Lymph node biopsy
84
Hodgkin's lymphoma management
Chemotherapy | Radiotherapy

3A (31 decks)

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