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What are the 3 main causes of Red cell aplasia in children?
1. Diamond Blackfan anaemia
2. Transient erythroblastopaenia
3. Parvovirus induced aplastic crisis.
What are some blood findings with haemolytic anaemia?
- Reduced Hb
- Increased reticulocytes
- Increased unconjugated bilirubin
- Increased LDH.
- Low haptoglobin
1. How is it inherited?
2. What is the most common presentation?
3. What are some possible triggers for crises?
4. Findings on blood film
2. Neonatal jaundice
3. - Infection, drugs like co-trimoxazole, dapsone, chloramphenicol, nitrofurantoin, antimalarials, ingestion of brad beans.
4. Polychromasia, fragmented red cells, bite cells, Henz bodies.
5. May need blood transfusion during acute crises.
Pyruvate Kinase deficiency:
1. How is it inherited?
2. Possible presentation?
3. Findings on film?
4. How is diagnosis made?
1. Autosomal recessive
2. Hydrops fetalis, neonatal haemolytic anaemia, chronic haemolytic anaemia in early childhood.
3. Prickle red cells
4. Measuring kinase levels
2. Findings on film
3. How is it inherited?
1. Red cell membrane disorder causing small membrane fragments to be lost as red cell passage occurs in the spleen.
2. Spherocytes - spherical red cells.
3. Autosomal dominant
4. Prophylactic folic acid, transfusions, splenectomy.
5. Pigmented gall stones, Red cell aplasia if infected with Parvovirus 19.
What is the underlying cause of thalassaemias?
Genetic defects leading to reduced rate of synth of either alpha or beta globin.
1. Cause of symptomatic disease
2. Possible symptoms
1. Deletion of 3 of 4 alpha globin genes
2. Mild anaemia, very few are transfusion dependent.
1. Main types
3. Type of anaemia
1. Beta thalassemia major ( both copies of the gene affected, no beta globin chains, excessive alpha globin chains) Beta thalassemia intermedia.
2. - Severe, transfusion dependent anaemia from 3-6 months old.
- Failure to thrive
- Helpatosplenomegaly and bone marrow expansion if untreated.
- Symptoms of haemolysis.
3. Microcytic, hypochromic anaemia.
4. - Monthly blood transfusions
- Monitor ferritin
- MRI scans to measure iron over load.
- Iron chelation agents desferrotaxime to prevent overload.
- Only definitive cure = haemopoetic stem cell transplant.
Sickle cell disease:
1. Genetic causes
2. Underlying aetiology
1. - Sickle cell anaemia: homozygous for HbS
- Sickle Beta thalassaemia: HbS from one parent, Beta thalassaemia trait from the other.
- HbSC disease: HbS from one parent, HbC from the other.
- Sickle cell trait: HbS from one parent, normal HbB from the other. Asymptomatic
2. Point mutation on codon 6 of beta globin chain.
3. - Chronic haemolytic anaemia
- Sickle cell crisis - pain, hepatic/splenic sequestration, aplastic crisis secondary to parvovirus 19 infection, cerebral infarcts.
- Dactylitis - inflammation of digits, can make hands rigid.
4. - Avoidance of crisis triggers.
- Folic acid
- Penicillin prophylaxis and vaccination
- Monthly blood transfusions.
1. Platelets <150x10^9/L
2. Bruising, heavy menstrual bleeding, petechiae, nosebleeds, GI bleeding.
3. Intracranial bleeds
4. Most resolve spontaneously, if not steroids and immunoglobulins.
Extrinsic clotting pathway problem:
1. High PT, normal APTT.
2. - Factor VII deficiency
- Warfarin treatment
Intrinsic pathway problem:
1. High APTT, normal PT.
2. - Haemophilia A/B
- Factor XI, XII deficiency
- Von Willebands disease
- Lupus anticoagulant
- Heparin treatment
- Factor VIII, IX, XI, XII deficiency
Common pathway problem:
1. High PT, High APTT
2. - High factor II, V or X deficiency
- Fibrinogen deficiency
- Vit K deficiency
2. What causes haemophilia A?
3. What causes heamophilia B?
4. Clotting pathway findings
2. Factor VIII deficiency
3. Factor IX deficiency
4. Intrinsic pathway problem: V. high APTT, normal PT.
5. - Severe <1% factor levels
-. Moderate 1-5% factor levels
- Mild >5-40% factor levels.
6. Treat with factor concentrate
1. What does Von-willebrand's factor do?
1. - Promotes platelet adhesion
- Binds do and stabilises factor VIII
2. - Nose bleeds
- Gum bleeding
- Easy bruising
- Excessive bleeding following surgery
3. Usually no treatment needed day to day, sometimes TXA or desmopressin needed pre-op.
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