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Sickle cell anaemia (Complications (Infection Sepsis BBV (transfusions),…
Sickle cell anaemia
Complications
Infection
Sepsis
BBV (transfusions)
Development
Growth retardation
Delayed puberty
Neurological
Stroke
Neurological damage
Psychosocial
Educational performance
Behavioural problems
LRespiratory
Lung fibrosis
Genitourinary
Priapism (can lead to ED)
Gallstones
Renal failure
Cardiovascular
Heart failure
Haematological
Hyposplenism
Sickle crises
Diagnosis
Examination
Neuro exam
Confusion, seizure, focal signs
Abdo exam
Pallor, jaundice, hepatosplenomegaly
Genital exam
Priaprism
Vascular exam
Leg ulcers (arterial)
Musculoskeletal exam
Dactylitis, bony pain
IInvestigations
Bedside
Obs (fever, shock if sequestration)
ECG
Bloods
FBC - low Hb; Fe studies - normal
Film - sickle cells, target cells, nucleated RBCs
Hb electrophoresis - HbS positive
Crossmatch 4u (if crisis)
Blood cultures (if suspected infection)
U+E, LFT, CRP
Imaging
CXR - pneumonia, chest syndrome
X-ray: avascular necrosis femoral head
Urine
Dipstick/MSU - if infection
History
SH
Living arrangements, school/work,
smoking, alcohol, diet
FH
Sickle cell, thalassemia
PMH
Growth and development
Vaccinations
Known medical conditions
PH/HPC
SOB, fatigue, palpitations, confusion,
fever, pain, SOB, wheeze, jaundice,
recent illness
DH
Meds, allergies
Epidemiology
Common in Africa (malaria)
Commonest inherited disorder in children
Pathophysiology
Sickle cell
disease
Mechanism
Genetic AR disorder, point mutation
Abnormal B-globin genes (HbS not HbA)
Heterozygote (AS; trait) or homozygote (SS)
Mechanism
HbS polymerises when deoxygenated. causes sickle-shaped RBCs, these have reduced lifespan, can haemolyse and block blood vessels
Heterozygote advantage for P. falciparum malaria
Symptomatic if homozygote or heterozygote with other haemaglobinopathy (e.g. thalassemia trait)
Reduced disease severity if patient naturally produces more HbF!
Effects on the spleen
Chronic sickle accumulation and microinfarction of the spleen results in hyposplenism by young childhood
Increased susceptibility to infection with encapsulated organisms e.g. pneumococcus, meningococcus, H influenzae
Sickle cell
crisis
Acute anaemia
Aplastic crisis
Parvovorus B19 infection causes
sudden pancytopenia, especially RBCs
Sequestration crisis
Pooling blood in spleen/liver, usually in kids,
leading to shock, severe anaemia, organ enlargement
Haemolytic crisis
Usually triggered by infection
Painful/ veno-occlusive crisis
Triggers - cold, infection, dehydration, hypoxia
Microvascular occlusion by sickle cells causing organ ischemia
Sites include hands/feet (dactylysis if <3y), limb and spinal bones
Chest syndrome
is the most severe, with potential hypoxia
Can also cause mesenteric ischemia and stroke
Clinical
presentation
Sickle crisis
Aplastic/sequestration
Confusion/reduced conciousness
Coma
Syncope
Fatigue
Palpitations
SOB
Veno-occlusive
Seizures
(CNS)
Focal neurological deficit
(CNS)
Abdo pain
(mesenteric ischemia)
Bony pain
e.g. spine
Priapism
Cognitive change
(CNS)
Chest syndrome
SOB
Fever
Wheeze
Chest pain
Stable disease
SOB
Palpitations
Fatigue
Syncope
Infections
Management
Stable disease
Medical
Hydroxycarbamide/hydroxyurea
Indication: frequent crises
MOA: inc conc fetal Hb, which doesnt polymerise
and deform RBCs, increasing Hb
SEs: Neutropenia
Prophylactic abx
Indication: hyposplenism
E.g. PO penicillin
MOA: prophylaxis against penumococcus
Surgical
BMT
Indication: severe disease, no response to medical tx, previous stroke
MOA: replace BM with that from
donor who produces HbA; potential cure, need HLA-identical sibling
Conservative
Information, advice, support
Genetic counselling
MDT (haematologist, specialist nurse, paeds, counselling)
Lifestyle (keep warm, hydration, no excessive exercise/hypoxia)
Immunisations (influenza, pneumococcal, meningococcal, HiB)
Crisis
Initial ABCDE
Definitive
Conservative
Information, advice, support
Adequate hydration
Medical
Broad-spec abx
Indication: chest syndrome
Exhcange transfusion
Indication: acute chest syndrome, stroke, priapism
Analgesia
Indication: pain
E.g. paracetamol, NSAIDs, IV morphine
Nebulisers
Indication: chest syndrome
E.g. salbutamol
Fluids
Indication: veno-occlusive crisis
E.g. 150% 0.9% saline
MOA: increase criculating blood volume
SE: pulmonary oedema
Mechanical ventilation
Indication: chest syndrome
Screening
Neonatal screening
Heel prick test at birth
Antenatal blood screening
Parents at risk
Chorionic villous sampling (cord blood)
Prognosis
Premature death due to
severe complications *50% >40y)
Low mortality during childhood
Definition
Genetic haematological disorder
of abnormal Hb and anaemia