Haematology Flashcards
What are the risk factors for iron deficiency anaemia in children?
Preterm Low birth weight Multiple pregnancy Exclusive breastfeeding>6m Female Adolescent Poverty
What are the causes of iron deficiency anaemia?
Malabsorption: IBD, Coeliac Malnutrition Bleeding Drugs: NSAIDs, Steroids Inc demand: Growth spurt
What are the signs & symptoms of iron deficiency anaemia?
Asymptomatic Mood, cognitive, psychomotor changes Fatigue SOB Pica Pallor (conjunctival) Angular Stomatitis Koilonychia
How is iron deficiency anaemia investigated?
Bloods: Hb, MCV, MCHC, Clotting, Ferritin, B12 & Folate, CRP
How is iron deficiency anaemia treated?
1.5-2mg/kg Ferrous Sulphate daily
Response within 5-10days
Continue for 3m after Hb has normalised
What is Henoch-Schonlein purpura?
IgA mediated small vessel vasculitis
What are the signs & symptoms of Henoch-Schonlein purpura?
Usually after URTI
TRIAD: Arthritis (large joints), Abdo pain, palpable papular purpuric rash over legs/buttocks
GI: Melena, haematemesis, intussusception, appendicitis, perforation
Renal: Glomerulonephritis, IgA nephritis, proteinuria
What are the investigations for Henoch-Schonlein purpura?
Bloods: FBC, U&E
Urinalysis: Haematuria
Renal biopsy if signs
What is the management of Henoch-Schonlein purpura?
Most benign & resolve within 6weeks
NSAIDs: Arthritis
Steroids: Arthritis & GI
What is haemolytic disease?
Mother is rhesus -ve
Baby rhesus +ve
Mother previously sensitised
Foetal blood crossing placenta causes immune response
Maternal IgG attacks foetal RBC cells causing haemolysis
How does haemolytic disease present?
Antenatal: Anaemia on doppler, hydros fetalis
Postnatal: Hydrops fetalis, early jaundice, kernicterus (neuro damage), coagulopathy, hypotonia, hepatosplenomegaly, blueberry muffin
Anaemia
How is haemolytic disease investigated?
Maternal: Rh -ve, inc anti-Rh titre Cord: Dec Hb & platelets, inc reticulocytes coomb's test neonatal blood fr croup & titre SBR: 4hrly, glucose, Hb
How is haemolytic disease treated?
Supervision +/Transfusion After birth check cord bloods Phototherapy Supportive therapy Oral folic acid: 250mcg/kg/day 6mnths Perform audiology test
Prophylaxis: Anti-D IgG.
What is haemophilia?
Congenital bleeding disorder Due to defective production of coagulation factors Sex-linked recessive inheritance Types A & B Type A: Factor 8 Type B: Christmas disease, factor 9
What are the signs & symptoms of haemophilia?
A & B indistinguishable
Rarely presents in neonates
Mild: Bleed after trauma/ surgery
Mod: Persistent bleeding after venepuncture, epistaxis, haematuria
Severe: Neonatal bleeding, IC haemorrhage, sport bleeding into joints & muscles
Easy bruising
Haematuria
Joints: Localised tenderness, warmth, swelling, limited RoM, degeneration
How is haemophilia investigated?
Bloods: INR(n), APTT(i), factor 8(d), bleeding time & von Willebrand (n)
CT head: IC bleed
USS/ joint x-ray
Type B: x6 less common than type A
How is haemophilia managed?
Major bleed: Factor 8/9 Emergency: FFP, Tranexamic acid Analgesia: NOT NSAIDs (dec platelets) Minor bleed: Pressure Mouth bleed: Oral Tranexamic acid AVOID: IM injections inc Vit K at birth Other: Rest, ice, limb splinting, physio
PROPHYLAXIS: IV con injections 3/week in severe disease
What are the complications of haemophilia?
Chronic arthropathy
Blood bourne virus transmission
Factor 8/9 inhibitor development
What is the pathophysiology of sickle cell anaemia?
Autosomal recessive in homogenous sickle haemoglobin
Glutamine becomes Valine on beta global chain = HbS
Less soluble, high viscosity
Polymerises when deoxygenated
Can’t flow through small vessels (hypoxia & ischaemia)
What are the features of sickle cell anaemia?
Infancy: Dactylitis, pallor, infections, hepatosplenomegaly
Young children: Infection, vaso-occlusion, stroke, UA obstruction
Older children: Infection, vaso-occlusion
What are the complications of sickle cell anaemia?
Vaso-occlusion crisis: Excrutiating pain in bones/joints, hands/feet (dactylitis), precipitated by infections, cold, hypoxia
Mx: Analgesia, warmth, rehydration
Acute chest: SOB, chest pain, cough, yellow sputum
Sequestration: Sickled blood in spleen/lung/liver, can be fatal
Avascular necrosis: Hip
Renal impairment: Hyposthenuria
Priapism: Painful erectile dysfunction
Retinopathy: Small vessel occlusion
Crisis:
Stroke: 5-10yr, asymptomatic infarcts
How is sickle cell anaemia investigated?
Clinical suspicion Blood film Haematology: Hb 5-9 Hb electrophoresis: Sickled cells Prophylaxis: Routine screening & heel prick test
How is sickle cell anaemia managed?
Hydration 150% normal Analgesia: Paracetamol, NSAIDs, Opiates Abx: If pyrexial- Cefotaxime. Add Clarithromycin if respiratory signs Oral folate Oxygen: Sats >95% Vaccinations Blood products: Crises BM transplant
What is thalassaemia?
Types: α-thalassaemia, β-thalassaemia major & minor
Autosomal Recessive
Decreased/absence of synthesis of 1 or 2 (α or β) chains that form adult human haemoglobin (HbA, α2/β2)
Results in reduced Hb in RBCs and anaemia.
HbA, the most common form of adult Hb, has 2 α & 2 β chains.
Fetal (HbF) has 2 α & 2 γ components (predominant type of Hb before birth).
Describe the different forms of α-thalassaemia
Genotype -α/–: Anaemic, very low MCV & MCH; splenomegaly, variable bone changes.
Major/Hb Bart’s: Genotype –/–, No α chains produced. Incompatible with life- Fetalis Hydrops
The more α chains the fewer symptoms
Describe the different forms of β-thalassaemia
Trait: Clinically asymptomatic
Minor: Anaemia, very low MCV & MCH; splenomegaly, variable bone changes, variable transfusion dependency.
Major: S.haemolytic anaemia, very low MCV & MCH; hepatosplenomegaly, chronic transfusion dependency.
How soon do symptoms develop after birth with the different types of thalassaemia?
α: At birth
β: Several months after birth- 5yo: When γ chain production ceases and the β chains fail to form in adequate numbers.
In what type of thalassaemia can Heinz bodies be seen?
α thalassaemia
What may be the symptoms seen in β-thalassaemia major?
Failure to thrive Vomiting feeds Sleepiness Irritability Stunted growth
What complications can be seen in TREATED thalassaemia?
Growth restriction
Iron overload: Endocrinopathy with diabetes, thyroid, adrenal and pituitary disorders.
What are the signs of severe thalassaemia?
Hepatosplenomegaly.
Bony deformities (frontal bossing, prominent facial bones, and dental malocclusion).
Marked pallor and slight to moderate jaundice.
Exercise intolerance, murmur/HF secondary to s. anaemia.
What are the investigations done for someone suspected of having thalassaemia?
FBC: Microcytic, hypochromic anaemia ↑ WCC ↑ Iron & Ferritin ↓ MCV & MCH Haemoglobin electrophoresis- DIAGNOSIS Skeletal survey ECG HLA typing: If BM transplant required Vision, hearing, U&E: Check iron levels PCR
How is thalassaemia managed?
Education & support
Genetic counselling offered
Avoid iron rich food inc tea & coffee
Vitamins: E, C, Folic acid
Desferrioxamine: Aid iron excretion
Intermedia: Close monitoring, occasional blood transfusion
Major: Regular hypertransfusion (maintain Hb >9.5 g/dL)
Iron chelation to prevent overload syndrome
Care by MDT
Consider splenectomy if hypersplenism
What are the complications associated with thalassaemia?
Iron overload Endocrine dysfunction: hypogonadotrophic hypogonadism, short stature, acquired hypothyroidism, hypoparathyroidism, DM High output HF Osteoporosis Transfusions: BBV (Hep B & C) Hepatocellular carcinoma Gout
