Haematology paeds Flashcards
Sickle cell anaemia
Aetiopathophysiology Presentation Precipitants Investigations Management Complications
Autosomal recessive
Glutamate –> valine
When the Hb is deoxygenated, it polymerises and –> sickle shaped –> blockages in small vessels
Presentation
Jaundice
Anaemia
Pigmented gall stones
Crises Painful: Acute chest syndrome - dyspnoea, chest pain etc AVN of femoral head Stroke Pain in long bones eg femur Dactylitis
Aplastic - parvovirus B19
Sequestration - bleeding into the spleen –> internal haemorrhage
Precipitants:
Cold/ exercise/ stress/ infections/ dehydration/ hypoxia
Investigations Heel prick test Hb electrophoresis HbF^, No HbA if homozygous, HbSS ^ reticulocytes Anaemia
Management
Avoid precipitants, keep hydrated, flu and pneumonia vaccines etc - can give prophylactic abx
If painful crisis - analgesia, O2, hydrate
Hydroxycarbamide
Hydroxyurea - keep the HbF^^
Stem cell transplant if severe
Sometimes may not present until 4-6m because HbA would not have taken over yet
Complications Stroke Delayed puberty Short stature Anaemia Cardiac + renal failure
Thalassaemia
Autosomal recessive
alpha or beta
Beta
Major >2 beta - no HbA
Minor - small amount of HbA
Alpha
mild - 1
mod 2/3
severe 4 alpha globins missing –> death in utero
haemolytic anaemia
Jaundice Anaemia FTT Hepatosplenomegaly Delayed puberty Face - Skull bossing - Maxillary overgrowth
Investigations
Hb electrophoresis
depends on type but ^HbF
HbA2
Management Blood transfusions (+iron chelating agent)
Haemophilia
Lack of factor:
VIII a
IX - b (Christmas disease)
X linked
Presentation
Haemoarthrosis - main dog
Prolonged bleeding after dental procedures + surgery
Mucosal bleed eg epistaxis/ gums
Investigations
Normal PT
^APTT
Management
Give factor VIII or IX
FFP
ITP Aetiology Presentation Investigations Management
Viral illness/ unknown
Presentation
Viral illness then 2 weeks later –> rash
Petichial rash
Bleeding from mucosa
Management
Supportive
Will resolve 1-3 months
VWD
Autosomal recessive
Lack of VWF
Presentation
Bruising bleeding etc
Management
desmopressin
G6PD deficiency
X linked
JAUNDICE
Precipitants Abx Broad beans Infection Antimalarials
Investigations: Blood film of: Hemi-ghosts Bite cells Heinz bodies
Management
Renal support
Transfusion (rare)
Hereditary spherocytosis
autosomal dominant
defect in RBC membrane proteins
Presentation anaemia Jaundice Aplastic crisis Splenomegaly Gall stones
Investigations
osmofragility test
Management
Transfusion
∆∆ petechiae
ALL
HSP
ITP
DIC/ sepsis
Long term blood transfusions
complications
iron overload
(cardiomegaly, liver cirrhosis)
infection (rare now blood is screened)
antibody formation
Inheritance of G6PD
X linked
What are the haemolytic anaemias +how do they present
Sickle cell
Hereditary spherocytosis
G6PD
Thalassaemia
Fatigue/ SOB
Juaundice/ gall stones
