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Paediatrics, Year 5 > Haematology (1) > Flashcards

Haematology (1) Flashcards

1
Q

What are the different types of Haemophilia and what is the inheritance pattern? Which one is more common?

When do symptoms first become apparent?

Which gene is responsivle for VWF disease?

A

Haemophilia A: deficiency factor 8 (more common)
Haemophilia B: deficiency of factor 9

Autosomal recessive inheritance

Symptoms are first notice at around 1 yr, when kids start falling over

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2
Q

What other syndromic abnormality will a woman with Haemophilia have?

A

Turner’s Syndrome
since this is an autosomal receseissive gene only individuals with one X-chromosome can have it

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3
Q

What are the different severities of Haemophilia?

A

Mild: bleeding after surgery (>5%)
Moderate: bleeding after minor trauma (1-5%)
Severe: Spontaneous bleeding (joint/muscles) (<1%)

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4
Q

How does haemophilia present differently in the neonatal and child age?

A

Presenting in children (around 1yr):
* Haematoarthrosis (leading to ahtritis)
* Suspicions of NAI

Presenting in neonates:
* Intracranial Haemorrhage
* Prolonged bleeding from venepuncture
* Bleeding circumcision (since it is one of the first surgeries performed)

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5
Q

What are the aprorpiate investigations to perform for haemophilia?

A
  1. History taking (especial during neonatal period)
  2. FHx
  3. Clotting studies: INR/PT (extrinsic) and APTT/PT (intrinsic)–> APPT is found to be increased and PT stable
  4. Platelet count and factor 8 levels (F8 is low for both Haem A and vWD)
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6
Q

What is the appropriate long term and emergency management for Haemophila?

A

MDT approach !! there are haemophilia centers

Mild Haemophilia A: Despopressin (stimulates both F8 and VWF)

Severe Haemophilia: prophylactic factor replacment (via central venous access device) (aim for 2% above baseline)
when <2-3yrs , central prophylaxis can be done at home, 2-3/per week

Active bleeding: IV F8/9

  • if minor bleed: raise to 30% to treat minor/ simple bleeds
  • if major bleed: raise 100% and then maintain at 30% for 2/52 to prevent secondary haemorrhage
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7
Q

What is the most common cause of Thrombocytopaenia in childhood ?

A

Idiopathic Thrombocytopenia Purpura
/
Autoimmune Thrombocytopenic Purpura

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8
Q

What is the aetiology of ITP and when does the condition first present?

A

Immune destruction of platelets by IgG autoantibodies
Presents at 2 - 6yrs often after Viral infection

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9
Q

What is the presentation of ITP?

A

Short history (days/weeks)
Petechiae, purpura
Superficial Bleeding
Epistaxis (and other mucosal bleeding )

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10
Q

How do you reach a diagnosis of ITP?

A

This is a diagnosis of exclusion (exclude genetic isorder and leukaemia/cancer)
* FBC
* Blood smear

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11
Q

What is the appropriate management of ITP?

A

In 80% of children this is an acute but self-limiting condition, **will resolve in 6-8 weeks **
Treat if there major bleeding (intracranial haemorrhage or persistent minor bleeding)

Asymptomtic-minor bleeding: plts>20x10(9)/L–> observation

Major bleeding: plts<20x10(9)/L–> IVIG + corticosteroid + anti-Rhd

Anti-RhD (anti-D coats the RBCs and is preferentially removed by the reticuloendothelial system in preference to the AB-covered platelets, thus conserving platelet levels)

IVIG contains antibodies that bind to the cells in the spleen. This keeps the spleen from destroying platelets.

if life threatening haemorrhage: platelettransfusion (raises platelets for a few hours)

Chronic diease, if it remains low for 6/12 after diagnosis

1st line
* Mycophenolate mofetil
* Rituximab
* Eltrombopag (thrombopoietin agonist)

2nd line = splenectomy

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12
Q

What is the main thought process when investigating anaemia causes?

A

Add picture

Reticulocytes, Bilirubin

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13
Q

What will a blood film show in Hereditary Spherocytosis, Sickle cell disease, Thalassaemia and Iron deficiency anaemia?

A

Hereditary Spherocytosis: spherocyres

Sickle cell disease: Sickle cells and targer cells

Thalassaemia: hypochromic/microcytic red cells

Iron deficiency Anaemia: hypochromic/microcytic red cells, low ferritin

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14
Q

What are the different causes of Microcytic, Normocytic and Macrocytic Anaemia?

A

Microcytic Anaemia: (TAILS)

  • Thalassaemia
  • Anaemia of Chronic Disease
  • Iron Deficiency Anaemia
  • Lead poisoning
  • Sideroblastic Anaemia (congenitla)**

Normocytic Anaemia: MR I CALM

  • Marrow failure
  • Renal Failure
  • Early IDA and ACD
  • Aplastic Anaemia/ Acute blood loss
  • Leukemia
  • Myelofibrosis

Macrocytic Anaemia:

  • Alcoholism
  • Myelodysplastic syndrome
  • Hypothyroidism, Haemolytic Anaemia
  • Liver failure
  • Folate/ B12 deficiency
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15
Q

What are the main causes of Iron Defient Anaemia and what are the main symptoms?

A
  1. Blood loss
  2. Inadequate intake
  3. Malabsorption

Feed slowly/ tire easily
PICA (eating soil, dirt)
Asymptomatic (unitl <60-70g/L)

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16
Q

What is the appropriate management of Iron Deficiency Anaemia?

A

Dietary Advise: dark green vegetables, meat, apricots, raisins

Oral ferrous sulphate, 200mg TDS –> unitl normal Hb–> continue for at least 3/12 after

  • re-check after 2-4 weeks, Hb should have increased by at least 2g/100ml
  • Advise that black stool is normal (can be reduced by eating it with food)
17
Q

What is the difference between Sickle cell Anaemia and Thalassemia?

A

Sickle cell Anaemia is a Haemoglobinopathy: **structuraly abnormal **beta chain

Thallasaemia: referes to a reduced production of haemoglobin

both are autosomal recessive

add tables for phenotypes

18
Q

What is the difference between alpha and beta thalassaemia?

A

Beta- thalassaemia: phenotypes
* Beta thal trait/ minor (HbS+)
* Beta thal intermedia (+) (HbS+++)
* Hb C disease (0) (HbC+)

Alpha thalassaemia phenotypes:

  • α-thalassemia major / Hb Barts (x4 α-globin deletion)  hydrops fetalis and death in utero
    ** HbH disease** (x3 α-globin deletion)  mild/mod anaemia (occasionally transfusion dependent)
    * α-thalassemia trait (x1 or x2 α-globin deletion)  asymptomatic with mild/no anaemia
19
Q

What is the gold standard for the diagnosis of Thalassaemia or sickle cell disease?

A

Electrophoresis

Sickle cell disease:
Normal beta globin chain = Glutamine = very +ve
Defective beta globin chain (HbS) = Valine = neutral
Defective beta globin chain (HbC) = Lysine = very -ve

20
Q

What is the presentation of Sickle cell Disease?

which ones are more common in children?

A

More common in children:
1. Splenomegaly
2. Hand and foot syndrome (swollen hands and feet–> dactylitis)

Non-age specific:
1. Acute Chest syndrome (due to infarction of the lung parenchyma)
2. Splenic Sequestration–> Anaemia, shock, death
3. Infection (especially in encapsulated organisms–> parvovirus, pneumococcus)
4. Painfull crisis/ vaso-occlusive (±priapism)

21
Q

What is the aetiology of anaemia in Sickle cell disease?

A
  1. Due to haemolysis
  2. there is increased HbS which is a low affinity Hb and it releases 02 more readily to tissues, therefore the EPO drive is lower resulting to anaemia
22
Q

What are the appropriate investigations for Sickle cell anaemia?

A
  1. Electrophoresis (gold standard)
  2. Family origins questionnaire (more common in Afro-Caribbean )
  3. FBC and blood smear (sickle cells, Howell- Jowell bodies nucleated RBC’s)
  4. Guthrie testing after antenatal screening
23
Q

What does the FBC and blood smear show in Sickle cell disease?

A

sickle cells, Howell-Jowell bodies (mostly in hyposplenism) and nucleated RBC’s

24
Q

What is the appropriate management for Sickle cell disease?

A

Education: avoid triggers (cold dehydration, excessive exercise, hypoxia)
Vaccination: immunisation against encapsulated organisms (e.g. Pneumococcus / S. pneumoniae and HiB)
Parvovirus B19 infection infects RBC precursors and can lead to an APLASTIC anaemia
In Parvovirus B19 infection, reticulocyte counts will be LOW
Prophylaxis: OD oral penicillin and OD oral folic acid

25
Q

What is the treatment for Acute Crisises?

A

Analgesia (avoid morphine if<12 yrs old)
Hydration
Antibiotics in infection
O2
Exchange transfusion in ACS, stroke and priapism

26
Q

If a patient with Sickle cell disease has reacurrent problems (ACS or vaso-occlusive crises) what interventions are appropriate?

A

Hydroxycarbamide: for recurrent hospital admission for ACS or vaso-occlusive crises)–>Stimulated HbF production
* Monitor for white blood cell suppression

HSCT (severe cases)

Paediatrics, Year 5 (6 decks)

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