Haemoglobinopathies And Thalassaemia Flashcards
HbSS epidemiology: common ethnicities, median survival and incidence
Commonly affects: Africans, central/south Americans of African ethnicity, Greek, Turkish, Arabic and Indian
Median survival 65
Affects 1:2500 live births
Who has antenatal screening for HbSS
Those who fall into the high risk category in the family origin questionnaire
Postnatal screening for hbss
-All babies arriving in UK who are <1
-presurgical if high prevalence area
-unexplained anaemia if from high prevalence area
Generic treatment for all sickle cells
-pen V/erythromycin
-folic acid
-vaccinations: flu, covid, pneumovax 5 yearly and men ACWY, B and C
-ECHO 3 yearly (TRV >2.5)
-slit lamp exam
-urine PCR
-transcranial doppler from age 2-16
Work up at diagnosis
Family history
Siblings who are affected/unaffected
Red cell phenotypes
Screen for hbv/hcv/hiv
S%
G6PD
Tests at regular clinic appointments
Ferritin- if >1000 organise ferritin and t2 cardiac mri
Urine pcr - <50mg/ml
ECHO for TRV <2.5
Lung function tests for pulmonary htn is symptomatic
Vitamin D
TCD annually
Tests at regular clinic appointments
Ferritin- if >1000 organise ferritin and t2 cardiac mri
Urine pcr - <50mg/ml
ECHO for TRV <2.5
Lung function tests for pulmonary htn is symptomatic
Vitamin D
TCD annually
When to consider iron chelation
Ferritin >1000
Liver iron >7mg/gDW
Indications for urgent red cell exchange
Acute neurological event
ACS
Multi organ failure
Severe sepsis
Systemic fat embolism
Progressive hepatopathy
Resistant priapism
Surgery
Girdle syndrome (abdominal mesenteric infarcts)
Indications for elective ebt
Primary stroke prevention in those transitioning from paediatrics
Secondary stroke prevention (s% target 20 rather than 30)
Pregnancy
Refractory leg ulcers
Hct target 0.32-0.34
When to offer HU
-for hbss or hbs/b0 aged 9-42 months regardless of severity
-those with 3 or more acute complications in a year
- all with severe phenotype
- had ACS
- primary prevention in children who have had 1 year of regular transfusions without image associated cerebral vasculopathy
Pregnancy advice/actions in hbss
-risk of increased for following
Mum: pre-eclampsia, preterm delivery, spontaneous abortion, vte, uti
Baby: iugr
Counselling pre and stop: HU, ACE-I and iron chelation 3 mknths prior to conception
Meds: Start vit D, folic acid and pen V.
Low dose aspirin 12-36/40
Thromboprophylaxis from 28/40 or earlier if additional risk factors and continue 6 weeks post partum
Monitor regularly in specialist combined obs haem clinic. Serial growth scans with doppler every 4 weeks from 24/40
Hbss confirmatory tests
Hb electrophoresis/highperformance liquid chromatography
HPLC first line
Isometric focusing (IEF)
capillary electrophoresis (CE)
Cellulose acetate electrophoresis (CAE)
Hbss prenatal diagnosis
Must be performed if both parents cariers
1st trimester CVS from 10 weeks
2nd trimester fetal blood sampling
