Haematology Flashcards
Briefly describe the pathophysiology behind Von Willebrand disease.
Bleeding disorder due to an abnormality of vWF. vWF acts as an adhesive bridge between platelets and the damaged sub-endothelium. Without it it takes longer for bleeding to stop.
Describe the treatment for VWD.
- Mild- Desmopressin (DDAVP)
2. Severe- plasma dereived FVIII concentrate
Describe the inheritance pattern seen in haemophilia.
X linked recessive
Haemophilia A is due to a deficiency in which clotting factor?
Factor VIII
Haemophilia B is due to a deficiency in which clotting factor?
Factor IX
Give 3 signs of haemophilia.
- Easy bruising
- Haematomas
- Joint bleeds - prophylaxis should be given to prevent this.
Give 2 causes of thrombocytopenia in children.
- ITP
2. Marrow failure
Give 3 signs of thrombocytopenia.
- Petechial rash.
- Bruising.
- Bleeding.
What diagnosis would you suspect in a child with a single figure platelet count but is otherwise well?
ITP.
They would have a normal blood film and clotting, just very low platelets.
What can trigger acute ITP?
Viral infection
What is the most common cause of anaemia in children?
Iron deficiency
Give 3 signs of anaemia in children.
- Pallor.
- Irritable.
- Tachycardic.
- Murmurs.
What is the treatment for iron deficiency anaemia?
Ferrous sulphate tablets
Why does the treatment for iron deficiency anaemia sometimes fail?
Due to non-compliance
Give 3 signs of beta thalassaemia major.
- Severe anaemia.
- Jaundice.
- Splenomegaly.
- Failure to thrive.
Describe the management of beta thalassaemia major.
- Genetic counselling.
- Blood transfusions.
- Iron chelation.
What does a low reticulocyte count indicate?
A production problem e.g. infection, renal disease, drugs, marrow failure/infiltration
What does a high reticulocyte count indicate?
A degradation problem e.g. bleeding or haemolysis
Give 3 consequences of sickle cell disease.
- Anaemia.
- Infection.
- Painful crises.
- Stroke.
- Acute chest syndrome
- Splenic sequestration.
Describe the inheritance pattern seen in sickle cell disease.
Autosomal Recessive.
What is the effect of sickle cell disease on Hb and reticulocyte count?
Low Hb.
Raised reticulocyte count.
Describe the treatment for sickle cell disease.
- Hydroxycarbamide.
- Transfusions.
- Stem cell transplants
What can trigger spherocytosis?
Parvovirus infection
Describe the inheritance pattern seen in hereditary spherocytosis
Autosomal Dominant
How can spherocytosis be treated?
Splenectomy - can increase RBC survival
What type of leukaemia is most common in children?
ALL
Give 3 symptoms of ALL.
Bone marrow failure:
- anaemia: lethargy and pallor
- neutropaenia: frequent or severe infections
- thrombocytopenia: easy bruising, petechiae
And other features:
- bone pain (secondary to bone marrow infiltration)
- splenomegaly
- hepatomegaly—fever is present in up to 50% of new cases (representing infection or constitutional symptom)
- testicular swelling
Describe the treatment for ALL.
Chemotherapy.
CNS directed therapy.
Stem cell transplant.
Which features suggest poor prognostic features of ALL?
Age < 2 years or > 10 years WBC > 20 * 109/l at diagnosis T or B cell surface markers Non-Caucasian Male sex
What investigations might you do in a child to determine whether they have ALL?
- Blood film.
- Serum chemistry.
- CXR.
- BM aspirate.
- Lumbar puncture - see if disease is in the CSF.
What is HSP?
A systemic vasculitis where there is deposition of IgA complexes. It is characterised by a palpable purpura and there is often renal involvement.
What is the SE of transfusions in beta thalassemic major patients? How is it managed?
repeated transfusion → iron overload
Tx: s/c infusion of desferrioxamine / oral iron chelation
