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Paediatric Haematology Flashcards

1
Q

Two broad causes of Anaemia

A

Impaired red cell production

Increased red cell destruction (haemolysis)

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2
Q

Causes of red cell aplasia

A

Parvovirus B19 infection
Diamond-Blackfan anaemia (congenital red cell aplasia)
Transient erythroblastopenia of childhood
Rarities: Fanconi anaemia, aplastic anaemia, leukaemia

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3
Q

Causes of ineffective erythropoiesis

A 
Iron deficiency
Folic deficiency 
Chronic inflammation (JIA)
Chronic renal failure 
Rarities: Myelodysplasia, lead poisoning
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4
Q

Causes of red cell membrane disorders

A

Hereditary spherocytosis

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5
Q

Causes of red cell enzyme disorders

A

G6P dehydrogenase deficiency

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6
Q

Haemoglobinopathies

A

Thalassemia’s, sickle cell

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7
Q

Immune causes of increased red cell destruction

A

HDN

Autoimmune haemolytic anaemia

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8
Q

Iron deficiency Anaemia: Presentation

A

Most asymptomatic until Hb below 60 – 70g/dL; Tire easier, feed slower than usual; General pallor is unreliable compared to pallor of Conjunctiva, Tongue or Palmar creases

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9
Q

Iron deficiency Anaemia: What is seen on blood film

A

Microcytic, Hypochromic Anaemia; Low Ferritin

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10
Q

Iron deficiency Anaemia: Causes

A

Inadequate intake, Malabsorption or Blood loss; Common in Infants as additional iron is required for increased blood volume following growth

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11
Q

Iron deficiency Anaemia: Sources of Iron for the infant

A

o Iron can come from Breastmilk (Low iron content, but 50% Iron absorbed vs 10% in Cow’s milk); Infant Formula (Supplemented)
o Solids introduced at weaning (E.g. Cereals; Supplemented but only 1% absorbed)
o Iron Absorption is markedly increased when eaten with food rich in Vitamin C; Absorption is inhibited by Tannins (E.g. in Tea)

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12
Q

Other causes of microcytic anaemia

A

Other causes of Microcytic Anaemia include Beta (and some Alpha) Thalassaemia Trait, Anaemia of Chronic Disease

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13
Q

Management of Iron Deficiency Anaemiaa

A

Dietary Advice and Supplementation with Oral Iron (Sytron =Sodium iron Edetate, or Niferex =Polysaccharide Iron Complex); Should be continued even after anaemia corrected for 3/12
o If taken accordingly, Hb should rise about 10g/dL per week
o Consider other causes if failure to respond in compliant patients, or non-dietary causes suspected – Malabsorption, or Chronic Loss
o Blood Transfusion should never be necessary – Can Tolerate as low as 20-30g/dL
• Treatment of deficiency with normal Hb (Non-Anaemic) – Oral Iron for Iron deficiency with normal Hb is not recommended; Dietary advice initially instead

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14
Q

3 Main types of red cell aplasias in children

A

Congenital (Diamond-Blackfan), Transient Erythroblastopaenia of Childhood (TEC), and Parvovirus B19 Infection (Only causes Aplastic Crisis in children with Haemolytic Anaemias)

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15
Q

Red Cell Aplasia: Investigation results

A

Low Reticulocyte count despite low Hb, Normal Bilirubin (Non-haemolytic), Negative Direct Antiglobulin Test (Non-AIHA) and absent red cell precursors in Bone Marrow

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16
Q

Diamond Blackfan

A

Diamond-Blackfan is rare; Can be associated with other anomalies such as Short stature or Abnormal thumbs; Treatment with Steroids, Monthly Transfusions or Stem Cell Transplant

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17
Q

Transient Erythroblastopaenia of Childhood (TEC)

A

TEC triggered by Viral Infections, similar presentation to DBA; Always recovers, usually within weeks; No family history, no congenital anomalies

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18
Q

Haemolytic Anaemias

A

Reduced RBC lifespan; Increased destruction either in circulation (Intravascular) or in Liver (Extravascular); Increased Bone Marrow production to compensate to a point

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19
Q

Causes of haemolytic anaemias in children

A

o In children (unlike Neonates), Immune Haemolytic Anaemias are uncommon; Mainly due to Membrane Defects, Enzymopathies or Haemoglobinopathies

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20
Q

Signs of Haemolysis

A

Haemolysis leads to Anaemia, Hepatomegaly, Splenomegaly, Increased Blood Unconjugated Bilirubin, Excess Urinary Urobilinogen, Raised Reticulocyte count, Abnormal RBC on Film, Positive DAT if Immune cause, Increased RBC precursors in Bone Marrow

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21
Q

Hereditary Spherocytosis

A

1 in 5000; Autosomal dominant or de-novo; RBC membrane protein mutations, resulting in membrane vulnerable to damage when travelling through spleen

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22
Q

Hereditary Spherocytosis : Signs

A

Mostly asymptomatic; Can have intermittent Jaundice, severe in first few days of life, Anaemia, Mild-to-moderate Splenomegaly, Aplastic Crisis when infected with Parvo, and Gallstones due to increased Bilirubin excretion

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23
Q

Hereditary Spherocytosis : Diagnosis

A

Diagnosis by Blood Film and other specialist tests

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24
Q

Hereditary Spherocytosis : Management

A

Oral Folic acid (higher requirement); Splenectomy is beneficial but only for poor growth or severe symptoms, and deferred >7yrs due to risk of Post-Splenectomy Sepsis
o Prior to surgery should receive HiB, Men C and Pneumococcal vaccine, with lifelong Oral Penicillin replacement
o Aplastic Crisis – Might require one or two transfusions over 3-4-week period

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25
G6PD Deficiency
• Most common Human Enzymopathy; 10-20% Prevalence in Central Africa, Mediterranean, Middle and Far East; Rate-limiting Enzyme in Pentose Phosphate Pathway, which is essential for protecting RBC against oxidative damage o Hence, more vulnerable to Oxidant-induced Haemolysis, usually drug-induced o X-linked; Predominantly causes symptoms in males
26
G6PD Deficiency: Presentation
• Present with Neonatal Jaundice (most common cause of severe Neonatal Jaundice requiring exchange transfusion) or Acute Haemolysis (Most commonly due to infection; Also, certain drugs, Flava Beans, Naphthalene 100 • Between episodes patients are normal;
27
G6PD Deficiency: Diagnosis
Diagnosis made by G6PD activity in RBCs; G6PD might be misleadingly elevated in Haemolysis due to higher concentration in Reticulocytes produced in response; Repeat test once Haemolytic episode over
28
G6PD Deficiency: Management
Patients advised on how to identify Acute Haemolysis, and list of things to avoid
29
Sickle Cell Disease
Most common inherited disorder in many European countries; 1 in 2000; Autosomal Recessive inheritance; SCD refers to Haemoglobinopathies where HbS is inherited o HbS forms due to point mutation in β-globin gene, causing a replacement from Glutamine to Valine, which interferes with protein folding o More common in Black Populations, as well as Middle Eastern
30
Types of SCD
• SCD encompasses Sickle Cell Anaemia (Homozygous for HbS), HbSC disease (HbS plus HbC, formed of a different point mutation of β-globin gene) and Sickle β-Thalassaemia; Also includes Sickle Trait (Heterozygous HbS; Asymptomatic)
31
SCD Pathophysiology
HbS polymerises within RBC, forming rigid tubular spiral bodies which deform the RBC into Sickle-shaped cells; Can become irreversible sickled, leading to reduced lifespan o Sickle cells can also cause Vaso-occlusion, causing Ischaemia; Exacerbated by Low Oxygen Tension, Dehydration and Cold o Severity of SCD depends on amount of HbF present, subject to individual variation
32
SCD Presentation
* Anaemia with clinically detectable Jaundice from Chronic Haemolysis * Increased risk of Encapsulated infections due to Hyposplenism from Chronic Sickling, as well as Microinfarction of the Spleen; Childhood risk of Overwhelming Sepsis * Vaso-occlusive Crisis – Hand-foot syndrome, Limb bones, Spine; Precipitated by Cold, Dehydration, Exercise, Stress, Hypoxia, Infection; Most * Haemolytic Crisis, Aplastic Crisis (Parvovirus Infection), Sequestration Crisis (Sudden Splenomegaly or Hepatomegaly, Abdominal Pain, Circulatory Collapse due to accumulation of Sickled cells in spleen * Priapism – Treat promptly with Exchange Transfusion due to risk of Fibrosis and ED
33
SCD: Most serious presentation
Acute Chest Syndrome, which can lead to Acute Hypoxia, need for Ventilation and Emergency Transfusion
34
SCD: Long Term Issues
Stroke, Cognitive Problems, Adenotonsillar Hypertrophy, Cardiomegaly and Heart Failure from Chronic Anaemia, Renal Dysfunction, Pigment stones, Leg Ulcers
35
SCD Management: Prophylaxis
* Prophylaxis – Full Immunisations including Pneumococcal, HiB and Men; Daily Oral Penicillin throughout childhood, Daily Oral Folic acid * Avoidance of triggers for Vaso-occlusive Crisis
36
Treatment for acute chest crisis
Oral or IV Analgesia, Hydration, Antibiotics if Infection, Oxygen; Exchange Transfusion is indicated for Acute Chest Syndrome, Stroke and Priapism
37
SCD Management: Medication
Hydroxycarbamide (Raises HbF production, protection against further crises; SE: WBC Suppression) for recurrent crises
38
SCD Management: Severe Disease
Stroke, or do not respond to Hydroxycarbamide) – BM Transplant; Cure for Sickle Cell Disease, but only possible if HLA-identical sibling o 90% Cure rate, but 5% risk of Fatal transplant-related complications
39
HbSC Disease
Nearly normal Hb, Fewer painful crises, but may develop Proliferative Retinopathy; Also, prone to Osteonecrosis of Hips and Shoulders
40
Beta Thalassemia
β-Thalassaemia more common in Indian, Mediterranean and Middle Eastern populations; Major (not able to produce HbA) or Intermedia (Small amount of HbA ± large amount of HbF)
41
Beta Thalassemia: Clinical Features
Severe Anaemia, which can be transfusion dependent, from 3 – 6/12 age; Faltering growth and failure • Extramedullary Haemopoiesis – Hepatosplenomegaly, Bone Marrow Expansion; Classical facies with Maxillary Overgrowth and Skill Bossing
42
β-Thalassaemia Major
Uniformly fatal without regular transfusion; Monthly transfusion required; Aims to raise Hb >100g/dL to reduce growth failure and prevent bone deformation o Iron overload from repeated transfusions causes Chronic Iron Overload, Liver Cirrhosis, Diabetes, Infertility, Growth Failure; Other complications of Transfusion includes Antibody Formation, Infection and issues with Venous Access o All given Subcut Deferoxamine or Oral Deferasirox from 2-3yrs age o BM Transplantation – HLA-identical sibling; 90% cure, 5% mortality
43
β-Thalassaemia Trait
Heterozygous; Microcytic, Hypochromic Anaemia; Mild/Without Anaemia, with disproportionately flow MCV and MCH o Raised HbA2, mildly raised HbF; Distinguished from IDA by Ferritin
44
α-Thalassaemia
Major (Hb Barts =Hydrops Foetalis) is not compatible with life; Intrauterine Transfusions and Lifelong Monthly Transfusions; HbH disease (3 deleted α-globin genes); α-Thalassaemia Trait (1 or 2 deleted genes)
45
Anaemia of the Newborn: Reduced RBC Production
Congenital Parvovirus Infection, Congenital RBC Aplasia (Diamond-Blackfan Anaemia); Low Hb, Normal RBC; Low Reticulocyte count, Normal Bilirubin
46
Anaemia of the Newborn: Increased Breakdown
– Extrinsic (Immune) or Intrinsic (Surface or Intracellular components); Increased Unconjugated Bilirubin o Non-immune causes – G6PD Deficiency, Hereditary Spherocytosis
47
Haemolytic Disease of the Newborn
Maternal Antibodies against Newborn Blood Group Antigens; Anti-Rh, Anti-A and Anti-B, Also Anti-Kell; Positive Direct Antigen Test (Coombs) o Routine Antenatal Anti-D Prophylaxis (RAADP) in Rh-negative mothers
48
Haemophilia
• Haemophilia A (Factor VIII; 1 in 5,000) and B (Factor IX; 1 in 30,000) are the most common, Severe Inherited Coagulation disorders • X-linked; 2/3 have family history; 1/3 sporadic; Prenatal Diagnosis by DNA analysis • Graded as Severe, Moderate or Mild based on Factor VIII levels
49
Haemophilia: Diagnosing
Severe Disease presents with Spontaneous Haemarthrosis, Most present towards end of first yr of life when mobilising o Can be misdiagnosed as NAI when no family history o 40% present in Neonatal period – Intracranial Haemorrhage, Prolonged Oozing from Heel prick and Venepuncture
50
Haemophilia: Clotting Studies
Normal PT, Greatly prolonged APTT, Normal vWF and RiCof
51
Haemophilia Management
• Recombinant Factor concentrate by prompt IV infusion if any bleeding; Highly purified, Virally-inactivated Plasma-derived products alternatively o Quantity depends on Site and Severity of Bleeding o Raising circulating level to 30% to treatment minor and simple joint bleeds; 100% for surgery and maintained 30-50% for 2/52 through regularly infusions
52
Haemophilia Management: Complications and Considerations
o Antibodies to FVIII and FIX can develop; Transfusion related infections are rare but serious; Vascular access might be a problem • Avoiding IM injections, Aspirin, NSAIDs should be avoided
53
Haemophilia Management: Prophylaxis
Prophylactic FVIII for Severe Disease; Begins around 2-3yrs, given 2-3 times weekly; • Desmopressin for Mild Haemophilia A; Endogenous release of FVIII:C and vWF
54
von-Willebrand
• Facilitates Platelet Adhesion to Damaged Endothelium, acting as a Carrier Protein for Factor VIII, protecting it from Inactivation and Clearance
55
von-Willebrand Disease
Quantitative or Qualitative deficiency; Defective Platelet Plug formation; Usually Autosomal Dominant; Most common subtype (Type 1) usually mild, often not diagnosed until Puberty and Adulthood; Bruising, Excessive Bleeding after surgery, Mucosal Bleeding such as Epistaxis and Menorrhagia; Spontaneous bleeding is uncommon C/f Haemophilia
56
von-Willebrand Disease: Treatment
• Type 1 treated with Desmopressin – Can cause Dilutional Hyponatraemia due to water retention and can cause seizures especially if repeated doses • More severe forms treated with Plasma-derived FVIII (NB: Recombinant FVIII does not contain von-Willebrand Factor) o Cryoprecipitate not used as it is not virally inactivated
57
Thrombocytopenia
Platelet count <150×109/L; Risk of bleeding depends on level; <20 (Severe), 20-50 (Moderate), 50-150 (Mild)
58
Signs of Thrombocytopenia
Bruising, Petechiae, Purpura, Mucosal Bleeding; Major bleeding (Severe GI, Haematuria, Intracranial Bleeding common)
59
Immune Thrombocytopenia
* Most common cause in Childhood; 4 per 100,000; Destruction of circulating Platelets by IgG Auto-Antibodies; Compensatory increase in Megakaryocytes in BM * Most present between 2-10yrs; Onset 1-2/52 after viral illness
60
Complications of Thrombocytopenia
Profuse bleeding is uncommon; Despite fact that Platelet Count falls <10 o Intracranial Bleeding is serious and rare complication, mainly if long periods of Severe Thrombocytopaenia
61
Thrombocytopenia: Diagnosis
Diagnosis of Exclusion – History, Clinical Features and Blood Film to exclude Atypical Clinical Features suggesting Acute Leukaemia (Anaemia, Neutropaenia, Hepatosplenomegaly, Marked Lymphadenopathy o ALL might be masked by Steroids – BM examination might be required
62
Congenital Causes of Thrombocytopaenia
Wiskott-Aldrich, Bernard-Soulier
63
Thrombocytopaenia: Management
Acute, benign and self-limiting in 80%; Most managed at home; Many do not require treatment even if <10 o Treat if evidence of Major Bleeding, or Persistent Minor Bleeding o Oral Prednisolone, IV Anti-D, IVIg; Significant SE from treatment o Platelet Transfusion for Life-threatening Haemorrhage, only lasts few hours o Children should avoid trauma and contact sports when low platelet counts • Chronic ITP – In 20% if remains low after 6/12; Supportive therapy
64
Disseminated Intravascular Coagulation
* Diffuse Fibrin deposition in Microvasculature, Consumption of Coagulation Factors and Platelets; Most commonly due to Severe Sepsis or Shock * Acute or Chronic; Likely activated due to Tissue Pathway activity
65
Signs of DIC
• Bruising, Purpura, Haemorrhage
66
When is DIC suspected?
Suspected if Thrombocytopaenia, Prolonged PT, Prolonged APTT, Low Fibrinogen, Raised Fibrinogen Degradation and D-dimers, MAHA
67
DIC Management
Manage underlying cause; Supportive care with FFP, Cryoprecipitate and Platelets; Antithrombin and Protein C can be used

Paediatrics STG (17 decks)

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