Haem Cram Flashcards
Microcytosis
Thalassemia Anaemia of chronic disease Iron deficiency Lead poisoning Sideroblastic anaemia Hereditary spherocytosis
Normocytic
Blood loss
Mixed nutritional def
Chronic disease
Transient erythroblastopenia of childhood
Macrocytosis
B12/folate def Brisk haemolysis Myelodysplasic syndrome Fanconi Diamond-Blackfan Osteoporosis
Spherocytes
Hereditary spherocytosis
Haemolytic anaemia
Liver disease
Post splenectomy
Acanthocytes/Spur cells
Liver disease
Storage diseases
Abetalipoproteinaemia
Target cells
Liver disease
Thalassemia
Bizarre cells
Burns
Vit E deficiency in neonates
Hereditary poikilocytosis
Cigar/Pencil cells
Iron def
Bite cells/Heinz bodies
G6PD
Haemolytic anaemia
Serum iron utility?
Minimal, biphasic and unreliable except to monitor compliance w therapy
Iron studies findings in iron def anaemia?
Low serum iron
High transferrin but low transferrin saturation
Low ferritin
How to investigate for iron def anaemia in pt with inflammation?
Soluble transferrin receptors
Transferrin receptor:ferritin ratio >2 suggestove of IDA
Stages of embryonic haematopoiesis?
Yolk sac up to 8 weeks gestation
Liver 6 weeks onwards
Spleen/thymus 9 weeks onwards
Bone marrow from 28 weeks
Increased HbA2 on haemoglobin electrophoresis?
B-Thalessemia Minor
Increased HbA2 and HbF on haemoglobin electrophoresis?
B-Thalessemia Intermedia
> 90% HbF/Hb2A on haemoglobin electrophoresis with NO HbA?
B-Thalessemia Major
Intrinsic pathway factors and test?
VIII, IX, XI, XII
APTT
Extrinsic pathway factors and test?
VII
PT
Vitamin K dependant clotting factors?
II, VII, IX, X
Causes of prolonged APTT?
Heparin
Lupus anticoagulant
Haemophilia A/B
Causes of prolonged PT?
Factor VII deficiency/inhibitor
Vit K def
Warfarin
Correction with mixing test?
Full correction = clotting factor deficiency
No correction = inhibitor present (EG lupus anticoagulant)
Nucleated red blood cells?
Always abnormal outside neonatal period
- high physiologic stress (hypoxia)
- infiltrative/malignant
When is macrocytosis within limits of normal?
Neonates
T21
Antiepileptic medication use
Anaemia
Thrombocytopenia
Hypersegmented neutrophils
Folate/B12 deficiency
Infant with microcytic anaemia and absent RBC precursors in marrow
Increased RBC adenosine deaminase
Craniofacial/clef palate/thumb/upper limb deformity
Diamond-Blackfan anaemia
Diamond-Blackfan pathogenesis?
Inherited defect of ribosomal protein RPS gene
Difference between Diamond-Blackfan and Transient Erythroblastopenia of childhood?
TEC usually >1yr old, have antecedent viral illness and not associated with congenital abnormalities
Cafe au lait
Short stature
Anaemia
Horseshoe kidney
Fanconi Anaemia
Dystrophic nails
Oral leukoplakia
Reticular pigmentation
Pancyotpenia
Ectodermal dysplasia
Eosin-5-maleimide binding
Osmotic fragility
Hereditary spherocytosis
Thalassemia physical findings?
Skeletal abnormalities - frontal bossing - hair on end radiographs - short limbs Hepatosplenomegaly
Complications of Beta-Thalassemia Major?
Jaundice
Gallstones
Hepatosplenomegaly req splenectomy
Skeletal changes
Iron overload - deposits liver (1yr), endocrine (3yrs), cardiac (10yrs)
Infections - yersinia, salmonella, listeria
Treatment/prevention of iron overload?
Chelation therapy -Desferrioxamine
Commence 1 year after transfusion therapy begins
SEs of desferrioxamine?
Risk increases as iron stores decrease
Ototoxicity
retinal changes
Bone dysplasia - truncal shortening
Desferrioxamine makes iron more available for Yersinia infections!
Most common genetic cause of alpha thalassemia?
Deletion mutations
Non-deletional mutations: “Constant Spring”
Hb Barts?
Newborns with alpha thal mutations
Management of alpha thal?
Folate supposed
Splenectomy
Transfusion
Avoid oxidative medications
Genetic cause of sickle cell anaemia?
Autosomal recessive
Single base pair change - GAG to GTG (valine instead of glutamine at 6th codon)
Treatment of sickle cell?
Hydroxyurea - reduces interaction between RBC & endothelium, reduces painful episodes Folic acid Transfusion Fe chelation Prophylactic penicillin until age 5 Immunisations!
Complications of sickle cell?
Iron overload, iron deposition in organs Splenic sequestration crisis Stroke Retinopathy Renal disease including night time bed wetting Cardiac deposition/Pulm HTN Gallstones
Child with sickle cell Fever Dyspnoea Chest pain Pulm infiltrates
Acute chest syndrome
50% of sickle cell pts
Blood transfusion as treatment
Hydroxyurea as prevention
Acute, severe pain of femoral/humeral head or mandible in pt with sickle cell?
Avascular necrosis
Infections more common in sickle cell and what abs not to use?
Salmonella, neisseria, strep pneumo
Do not use ceftriaxone - risk of haemolysis
Blood product with highest risk of bacterial contamination?
Platelets
Stored at room temp for up to 5 days
FFP and indications?
All clotting factors
Warfarin, liver disease, DIC, massive transfusion, deficiency of 2, 5, 10, 11
Cryoprecipitate and indications?
Fibrinogen, vWF, VIII and IX
Dysfibrinogenemia, DIC, vWF (last line)
Prothrombinex and indictions?
2, 9, 10, 11
Warfarin reversal
Extrinsic pathway?
Activated by tissue factor (damage to tissue wall)
Tissue factor -> factor VII
TF & VIIa = X
Intrinsic pathway?
Triggered by contact activation platelet receptor 2b3a
Activated Factor XII -> Factor XI
XI -> IX
IX + VIII + phospholipids = Factor X
Common pathway?
Activation of Factor X
Xa + Ca + phospholipid + V = prothrombinase -> thrombin
Thrombin cleaves fibrinogen to fibrin
Factor 13 stabilises the clot
DIC investigation findings?
Thrombocytopenia, anaemia Fragmented, burr, helmet cells on film Reduced coag factors APTT and PT/INR both prolonged Increased D-Dimer
DIC mangement?
Treat trigger - sepsis, acidosis, hypoxia
Platelet fusion (thrombocytopenia)
Cryoprecipate (hypofibrinogenemia)
FFP (coag factors/inhibitors)
Liver disease vs DIC?
Factor VIII levels in liver disease normal or high, in DIC LOW
D-Dimer in liver disease normal, in DIC dramatically elevated
Haemophilia A, B and C?
A = Factor VIII deficiency B = Factor IX deficiency C = Factor XI deficiency
Genetic cause of Haemophilia A/B?
X-linked
Genes for both VIII and IX on the long arm of the X chromosome
Common presentations of Haemophilia?
Intracranial haemorrhage as newborn
Haemarthrosis
Psoas haemorrhage
Management of Haemophilia?
Avoid trauma Avoid NSAIDs/aspirin Desmopressin if Haemophilia A Recombinant Factor VIII & IX Rituximab if inhibitor present Activated Factor VIIa if inhibitor present
Chronic complications of Haemophilia?
Arthropathy - inflammatory response can result in target joint
Development of inhibitor (IgG antibodies)
Blood transfusion borne infection
Obesity
Ashkenazi Jewish child with bleeding post dental surgery and prolonged PTT?
Haemophilia C
Treatment of von Willebrands?
Desmopressin - increases VWF release from endothelial cells
Tranexamic acid
PLASMA DERIVED Factor VIII
Risk factors for early onset haemorrhage disease of the newborn?
Maternal phenobarbital, phenytoin, warfarin, rifampicin
Risk factors for classic (2-7 days) haemorrhage disease of the newborn?
Vit K deficiency
Breastfeeding
Risk factors for late onset (1-6mths) haemorrhage disease of the newborn?
Cholestasis (vit K malabsorption)
Biliary atresia
Can be idiopathic in Asian breastfed infants
Thrombocytopenia
Normal sized platelets
Absent radius
Thrombocytopenia with absent radii
Mucosal bleeding
Thromobocytopenia
Large sized platelets
Bernard-Soulier
Bleeding
Normal platelets
Platelet aggregation normal with ristocetin but low with other agents
Glannzman Thrombasthenia
Sudden onset petechiae and mucosal bleeding
Preceding viral illness
Generally well
Idiopathic Thrombocytopenic Purpura
Risk of ICH in ITP?
<1%
Treatment of ITP?
Conservative/expectant Pred if active mucosal bleed IVIG if more rapid treatment req IV anti-D if Rh pos patient Splenectomy if severe chronic or life threatening haemorrhage
Fever Microangiopathic haemolytic anaemia Thrombocytopenia Abnormal renal function CNS changes
Thrombotic Thrombocytopenic Purpura
