Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Paeds > Haem > Flashcards

Haem Flashcards

1
Q

What is haemophilia?

A

X-linked recessive disorder of coagulation

  • Haemophilia A > deficiency of factor 8 (most common)
  • Haemophilia B > deficiency of factor 9

> Problem in secondary haemostasis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the pathophysiology of haemophilia?

A

Reduced thrombin generation > delayed clot formation > unstable clot formation > clots easily dislodged > excessive bleeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Who does haemophilia occur in?

A
  • Primarily affects males
  • If female affected > likely they have Turner’s (only 1 X chr)
  • Most present ~1yr (when walking/falling over begins)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

How is the severity of haemophilia classified?

A

Mild:

  • > 5% factor 8/9 levels
  • Bleeding after surgery

Moderate:

  • 1-5% factor 8/9 levels
  • Bleeding after minor trauma

Severe:

  • <1% factor 8/9 levels
  • Spontaneous bleeding (joints/muscles)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the S/S of haemophilia?

A

General sx:

  • Recurrent or severe deep bleeding
  • Haemathroses, muscle haematomas, brain haemorrhages, late rebleeding, retroperitoneal bleeding
  • Minor mucocutaneous bleeding (epistaxis, gums, easy bruising)

Presenting ~1yr:

  • Suspicions of NAI (if no FHx)
  • Limping

Presenting at neonatal age (40%):

  • Intracranial haemorrhage
  • Bleeding circumcision
  • Prolonged bleeding from venepuncture
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are the investigations for haemophilia?

A

Clotting studies:

  • APTT prolonged
  • Normal INR, BT, PT, PC
  • Factor 8 activity low, levels low or normal

> Neonate hx / FHx

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is the management of haemophilia?

A

MDT > haemophilia centres

Initial / actively bleeding:

  • Analgesia - AVOID NSAIDS
  • IV clotting factor concentrate

Minor bleeds > raise to 30% normal
Major bleeds > raise to 100%, maintain at 30% for 2wks to prevent secondary haemorrhage

Severe haemophilia:

  • Prophylactic factor replacement 2/3 times per week (via central venous access device, i.e. HICKMAN)
  • Raise baseline to >2%

Parent education

  • Immediate management of trauma
  • The need to present to hospital early
  • Management of head injury

+ Physiotherapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What should be avoided in Haemophilia?

A
  • IM injections
  • Aspirin
  • NSAIDs > can affect platelet function
  • Some contact sports in severe haemophilia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is ITP?

A

An immune-mediated reduction in the platelet count, resulting in bruising or a bleeding tendency

> IgG auto antibodies directed against the glycoprotein IIb-IIa or Ib complex

> Problem in primary haemostasis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

When does ITP present?

A
  • Presents between 2-6yrs, often 1-2wks after viral infection
  • More common in women
  • Associated with SLE, CLL, APS, HIV, HCV
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are the S/S of ITP?

A
  • Could be asx
  • Short hx (days-weeks)
  • Mucocutaneous bleeding (no deep bleeding)
  • Skin bleeding = petechiae, purpura
  • Mucosal bleeding = epistaxis, menorrhagia, easy bruising, haemoptysis, GI bleeding, haematuria
  • Signs of other illness (infections, wasting, splenomegaly)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are the investigations for ITP?

A

Dx of exclusion > exclude myelodysplasia, acute leukaemia, marrow infiltration

Bloods:

  • FBC - PC low
  • Clotting screen - BT high, normal PT / APTT / fibrinogen
  • Autoantibodies (antiplatelet autoantibody (IgG) may be present but not used routinely for dx)

Blood film:

  • Rule out pseudothrombocytopaenia caused by platelet clumping giving falsely low counts (used EDTA - purple tube, should use blue tube)
  • Peripheral smear = macrothrombocytopenia

BM aspiration:

  • Normal or increased megakaryocytes
  • Exclude other pathology if atypical signs e.g. splenomegaly, bone pain, diffuse lymphadenopathy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the management of ITP?

A

Asx / minor bleeding:

  • Acute, benign, and self-limiting (80%)
  • Observation/manage at home, resolves spontaneously in 6-8w
  • Tx only if evidence of major bleeding (e.g. intracranial or GI) or persistent minor bleeding that affects daily life (e.g. excessive epistaxis)

Major bleeding:

  • 1st line = oral prednisolone
  • 2nd line = IVIG
  • Refractory = Immunosuppressive drugs e.g. cyclophosphamide

Life- or Organ-threatening bleeding:

  • IVIG + CS + platelet transfusion

Child with Chronic Disease:

  • Rituximab
  • Eltrombopag (thrombopoietin agonist)
  • 2nd line: splenectomy (platelets <30 after 3m of steroids)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is IDA?

A

Reduced Hb with low MCV (<80fl) and depleted iron stores

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the causes of IDA?

A
  • Inadequate dietary intake (vegan/vegetarian)
  • Malabsorption (Coeliac)
  • Blood loss (menorrhagia, acute haemorrhage)
  • Increased iron requirements (growth, prematurity, IUGR, post malnutrition)
  • Decreased Fe2 stores at birth (prematurity, multiple pregnancy, perinatal bleeding, early umbilical cord clamping, maternal Fe2 deficiency)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are sources of iron?

A
  • Breastmilk (low content but 50% absorbed)
  • Infant formula
  • Cow’s milk (high content but only 10% absorbed)
  • Solids introduced at weaning (i.e. cereal)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the S/S of IDA?

A
  • Asx until <60-70g/L
  • Fatigue / feed slowly / tire quickly / poor exercise tolerance
  • FTT / impaired concentration / impaired progress at school
  • Global developmental delay
  • Headaches
  • Irritability
  • Anorexia
  • Pica (ingestion of odd materials with increased Fe2 e.g. dirt/soil)

O/E > pallor, systolic flow murmurs, nail changes (koilonychia), atrophic glossitis, angular stomatitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are the investigations for IDA?

A

Hx for potential causes:

  • Changes in diet, DHx, menstrual hx, WL, change in bowel habit

FBC: Hypochromic microcytic anaemia

  • Low Hb, serum ferritin, serum Fe2, haematocrit, MCV
  • High TIBC

Blood film:

  • Anisopoikilocytosis (RBCs of different sizes and shapes)
  • Target cells
  • ‘Pencil’ poikilocytes

Hb electrophoresis:

  • Exclude b-thalassaemia trait or sickle cell disease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the management of IDA?

A

Dietary advice

  • Dark-green vegetables, meat, apricots, raisins

Oral ferrous sulphate

  • Until normal Hb, continue for at least 3m after
  • Re-check iron levels 2-4w after commencing therapy, if normal check at 2-4m
  • Advice black stools are common and normal side effect

Preterm

  • Fortify breast milk with Fe2 > use Fe2-fortified milk formula

Blood transfusion

  • Indicated with severe anaemia leading to CHF and CVS compromise
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is sickle cell disease?

A

Autosomal recessive genetic condition with abnormal sickle-shaped red blood cells secondary to HbS production instead of HbA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is a RF for sickle cell disease?

A

Afro-Caribbean or African decent

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are the karyotypes of sickle cell?

A

HbAA > normal Hb
Homozygous HbSS > sickle cell anaemia
Heterozygous HbS and HbC (HbSC) > sickle cell disease (milder sickling than HbSS)
Heterozygous HbAS > sickle cell trait (mild anaemia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are the S/S of sickle cell disease?

A

Thrombotic crisis

  • Hand and foot syndrome (swollen hands and feet, dactylitis) > one of the earliest signs
  • Acute chest syndrome (ACS) > SOB, cough, pain, pyrexia
  • Severe abdominal pain (mimics acute abdomen)
    +/- priapism

Splenic sequestration crisis (sickled RBC pools in spleen)

  • Sudden rapid enlargement > repeated splenic infarction > impaired splenic function (immunodeficiency)
  • Repeated events cause splenic fibrosis and hypoplasia
    > anaemia, shock, death

Aplastic crises > BM suddenly stops producing RBCs

  • Secondary to parvovirus B19 infection
  • Sudden anaemia > lethargy and pallor

Splenomegaly (only in children)

24
Q

What are the investigations for sickle cell?

A

1. Newborn heel prick test

2. Solubility test > tests for HbS

  • If cloudy, next step > Hb electrophoresis

3. Hb electrophoresis (gold standard)

  • HbS
  • Absence of HbA (in HbSS)
  • Increased levels of HbF

4. Bloods

  • Low Hb
  • High reticulocytes in haemolytic crisis, low reticulocytes in aplastic crisis
  • U&Es

5. Blood film

  • Sickle cells
  • Anisocytosis - RBCs that are unequal in size
  • Features of hyposplenism (target cells, Howell-Jolly bodies)
25
Q

What is the management of a vaso-occlusive crisis?

A

1st line = analgesia

  • Mild - paracetamol
  • Moderate - NSAID / codeine (only >12s)
  • Severe - stronger opioids

Supportive care:

  • Oxygen therapy
  • Treatment of any specific precipitating cause is required, such as correction of acidosis or warming the patient if an exposure to cold was a precipitant

Consider:

  • Fluids
  • Abx if sign of infection
  • Blood transfusion (simple or exchange) if life-threatening vaso-occlusive events, symptomatic anaemia, acute organ dysfunction, high-risk procedures (including general anaesthesia), and in selected pregnancies.
26
Q

What is the management for acute chest syndrome?

A

1st line = oxygen and spirometry

Plus:

  • Analgesia
  • Broad spectrum abx

Consider:

  • Fluids
  • Tranfusion
27
Q

What is the long-term management of sickle cell?

A

Education:

  • Vaso-occlusive crises minimised by avoiding exposure to cold, dehydration, excessive exercise, undue stress or hypoxia

Prophylaxis:

  • Immunisation against encapsulated organisms (e.g. S. pneumoniae and H. influenzae type B)
  • Daily oral penicillin
  • Daily oral folic acid (due to hyperplastic erythropoiesis, growth spurts, increased turnover)

Chronic problems:

  • Hydroxycarbamide (for recurrent hospital admission for ACS or vaso-occlusive crises)
  • Monitor for WBC suppression
  • HSCT (severe cases)
28
Q

What is thalassaemia?

A

Autosomal recessive inherited disorders of Hb synthesis affecting a- and b-chain genes

29
Q

How is beta-thalssaemia classified?

A

Thalassaemia minor (trait)

  • Heterozygous
  • 1 normal gene, 1 affected gene
  • Varied production of b-globin
  • Asx or mild anaemia

Thalassaemia intermedia

  • Homozygous
  • 2 mutated genes, but mutations less severe
  • Minor defects in b-globin
  • Mild anaemia

Thalassaemia major (Cooley anaemia)

  • Homozygous
  • 2 mutated genes
  • No b-globin
  • Major anaemia
30
Q

How is alpha thalassaemia classified?

A

A-Thalassaemia trait

  • 1 a-globin deletion
  • Asx

A-Thalassaemia minor

  • 2 a-globin deletion
  • Asx or mild anaemia

HbH disease

  • 3 a-globin deletion
  • Mild / moderate anaemia

A-Thalassaemia major / Hb Barts

  • 4 a-globin deletion
  • Hydrops fetalis and death in utero
31
Q

What are the S/S of B-thalassaemia major?

A

Presents in first year of life with FTT and hepatosplenomegaly

  • Extramedullary haematopoiesis > bone expansion, hepatosplenomegaly, frontal bossing
  • Anaemia > 3-6m, HF, growth retardation
  • Iron overload > HF, gonadal failure
  • Pallor, jaundice, gallstones, tiredness, weakness
32
Q

What are the investigations for thalassaemia?

A

Haemoglobinopathy screening programme:

  • HPLC
  • Only B-thal
  • HbA2 > 3.5% = b-thal

Hb electrophoresis = gold standard

  • a-thal trait = normal
  • HbH = high HbH
  • HbBarts = high HbBarts
  • B-thal minor/intermedia = decreased HbA, increased HbF/HbA2
  • B-thal major = NO HbA, increased HbF/HbA2

Bloods

  • Low Hb, MCV/MCH, haematocrit
  • Normal PC, iron studies
  • B-thal major = high reticulocytes

Blood smear

  • Microcytic red cells
  • Tear drop cells
  • Microspherocytes
  • Target cells
  • Schistocytes
  • Nucleated RBCs

Prenatal

  • Prenatal dx via CVS + genetic counselling offered to parents who are heterozygous for b-thal
33
Q

What is the management of thalassaemia?

A

B-Thal major / HbH

  • Blood transfusions
  • Aim to maintain Hb >100 g/L to reduce growth failure + prevent bone deformation
  • Can cause iron overload > > CF, liver cirrhosis, diabetes, infertility, growth failure
  • To prevent > tx with iron chelation
  • Chelators include SC deferoxamine or PO deferasirox
  • Good compliance with transfusion and chelation is associated with a high probability of surviving beyond 40yrs
  • BM transplantation is only cure for b-thal major
  • However, reserved for children with an HLA-identical sibling

B-Thal / a-Thal minor

  • No tx needed

+ Genetic Counselling

34
Q

What is haemolytic disease of the newborn?

A

Mixing at delivery or transplacental passage of maternal antibodies which causes immune haemolysis of foetal/neonatal RBCs

(Maternal antibodies against foetal blood group antigens)

35
Q

What are the most common types of HDN?

A
  • ABO incompatibility (more common, less severe)
  • Rh incompatibility (less common, more severe)
36
Q

What are the features of ABO incompatibility?

A
  • Mother blood group O (has anti-A and anti-B IgG)
  • Baby blood group A (or B)

> > Antibody-antigen reaction causes agglutination

  • Can occur during first and subsequent pregnancies
  • Cannot prevent it
37
Q

What are the features of Rh incompatibility?

A
  • Mother Rh-
  • Baby Rh+ (father Rh+)
  • Cannot occur during first pregnancy (requires previous sensitisation, incidence increases with each pregnancy )
  • Can be prevented
38
Q

What are the S/S of HDN?

A
  • ABO = No/mild anaemia
  • Rh = Severe anaemia (can cause hydrops fetalis)
  • Jaundice <24hrs > hepatosplenomegaly, kernicterus
  • Yellow amniotic fluid
  • Pallor
39
Q

What are the investigations for HDN?

A

Bloods

  • FBC = Low Hb, low Hct, high reticulocytes
  • uBR = high

Indirect Coombs Test (Rh)
Detects ABs against RBCs in the blood

  • Presence of anti-D ABs in mother
  • All Rh -ve women have this test performed at first antenatal visit

Direct Coombs’ Test
Detects presence of ABs or complement proteins that are bound to the surface of RBCs

  • Performed when sx of haemolytic anaemia
  • ABO = weakly positive
  • Rh = strongly positive

+ USS (organomegaly)

40
Q

What is the management of HDN?

A

Prevention (Rh)

  1. Atypical Antibody Test at 28w to see if mother sensitised
  2. If unsensitised, give anti-D prophylaxis at 28-30w, and again after delivery if baby Rh +
  3. If already sensitised, analyse AF > can give in utero exchange transfusion if severe

Treatment

  • No anaemia/jaundice = no tx
  • Jaundice = phototherapy +/- IVIG (if bilirubin is rising >8.5)
  • Anaemia = exchange transfusion (give Rh- blood for ~6w)
41
Q

Which inherited metabolic disorders are newborns screened for?

A
  • Congenital hypothyroidism
  • Cystic fibrosis
  • Sickle cell disease
  • 6 Inborn Errors in Metabolism (IEM)
42
Q

What is G6PDD?

A
  • G6PD is the rate-limiting enzyme in the pentose-phosphate shunt (vital to prevent oxidative damage to RBCs)
  • X-linked (affects males, homozygous females)
  • More common in people from the Mediterranean and Africa
43
Q

What drugs cause G6PDD?

A
  • Antimalarials e.g. quinine
  • Antibiotics e.g. nitrofurantoin
  • Analgesics e.g. high-dose aspirin
  • Chemicals e.g. fava beans, naphthalene moth bal
44
Q

What are the S/S of G6PDD?

A

Signs of Intravascular haemolysis

  • Neonatal jaundice
  • Pallor
  • Dark urine
  • Gallstones common
  • Splenomegaly may be present
45
Q

What are the investigations for G6PDD?

A

Diagnosis made using G6PD enzyme assay

  • Raised G6PD during acute episode
  • Reduced G6PD after acute episode (3m later)

Blood film

  • Heinz bodies
  • Bite cells
46
Q

What is the management of G6PDD?

A

Advice

  • Aware of signs of acute haemolysis (jaundice, pallor, dark urine)
  • Avoidance of specific drugs, chemicals and foods

Acute haemolysis

  • Supportive care
  • Folic acid
  • Blood transfusions rarely required
47
Q

What are the S/S of Gaucher’s disease?

A

Acute infantile form

  • Hepatosplenomegaly
  • Neurological degeneration with seizures

Chronic childhood form (most common)

  • Hepatosplenomegaly
  • BM suppression with anaemia
48
Q

What is Gaucher’s disease?

A

The most common lysosomal storage disease (subtype: sphingolipidosis)

49
Q

What are the investigations for Gaucher’s disease?

A
  • FBC and blood film
  • LFTs and clotting
  • USS of liver and spleen
  • BM aspirate > Gaucher cells
50
Q

What is the management of Gaucher’s disease?

A
  • Splenectomy
  • Enzyme replacement (IV recombinant glucocerebrosidase)
  • Bisphosphonates
  • Anaemia mx
51
Q

What are the S/S of Galactosaemia?

A
  • Usually presents in neonatal life with jaundice and hypoglycaemia
  • Hepatomegaly
  • Sepsis (gal-1-phos inhibits the immune response)
  • If not picked up in infancy > present in early life with bilateral cataracts
52
Q

What are the investigations for galactosaemia?

A
  • High galactose in urine
  • Red cell Gal-1-PUT
53
Q

What is the management of galactosaemia?

A
  • Avoid galactose (e.g. milk)
  • Complications = ovarian failure and learning difficulties may occur later
54
Q

What are the S/S of glycogen storage disease?

A
  • Hypoglycaemia > G6P cannot leave cells
  • Lactic acidosis > G6P builds up as lactate
  • Neutropenia > G6P suppresses the immune system
  • Hepatomegaly
  • Nephromegaly
55
Q

What is the management of glycogen storage disease?

A
  • Manage intake of CHO carefully to avoid storage
  • Pompe > alpha-glucosidase injections

Paeds (18 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions