Approach to the involvedApproach to the involved populations. p p
Ongoing programs. Planned programs.
D Mi h l A ti i tiDr Michael AngastiniotisThalassaemia International Federation
2nd European Hemoglobinopathy Forum Madrid 29th November 2011
Why prevention?
Relevance to thalassaemia patients
Relevance to prospective parents: at-risk couplesrisk couples
Relevance to the community: public y phealth issues.
Relevance to patients
Optimum treatment is required for p qsurvival and quality of life
N t t t l d thNo treatment means early death.
Less treatment means poor quality ofLess treatment means poor quality of life and early death.
P ti tPatient care
Voluntary blood donation and adequate suppliesSafe bloodProvision of essential drugs chelatingProvision of essential drugs chelating agentsFree medical treatmentExpert reference centers. Quality of care.p yMultidisciplinary care
Increase in blood requirementsEstimates for Cyprusyp
If no prevention Blood requirements units/year
50000
200003000040000
Bloodrequirements
01000020000 requirements
units/year
01 4 7 10 13 16 19 22
Extent of Clinical Management and Prevention gAcross the World
BLOOD
AustraliaRussia
South Africa
BLOOD TRANSFUSION IRON CHELATION PREVENTION
ArgentinaBrazil
GreeceItaly
AlbaniaBulgaria
RomaniaPalestine
CyprusEgyptgyp
LebanonJordan
IraqIran
MaldivesMalaysiaThailand
Indonesia (1000)China
Hong Kong Prenatal IndonesiaSri Lanka
India
Diagnosis
Screening
Relevance to at-risk couples
The right to healthy childrenTh i ht t i f tiThe right to informationThe right not to knowThe right to choose
C l h tiCouples who carry a genetic disorderdisorder
Reproductive options:Remain childless
Reproductive options:
Take a chance, risk of having an affected childPrenatal diagnosis Pre implantation Genetic Diagnosis (PGD)Pre-implantation Genetic Diagnosis (PGD)Gamete donation (artificial insemination)Adoption
P ti t t iPrevention strategies
Public education and awarenessPopulation screening Specialised labsPopulation screening. Specialised labsGenetic counselling. Counsellors?Prenatal diagnosisPre-implantation diagnosisPre-implantation diagnosisEthical principles: voluntary, autonomy
f l i ht t f llof couples, right to full information, confidentiality: informed choicechoice
Developing a prevention serviceGeneral Strategies and Plans:General Strategies and Plans:1. Epidemiological knowledge
2. National support and control
3 Education of the public3. Education of the public
4. Manpower planning and qualifications
5. Laboratory infrastructure
6 Screening policies PND PGD6. Screening policies, PND, PGD
7. Legal and ethical considerations
Epidemiological knowledge:
• Need to know the frequencies and prevalence in each country
• Need for micromapping in order to best locate services
• Need to know the rate of consanguinity
Need to estimate the expected annual• Need to estimate the expected annual affected births
S i i di t• Service indicators
Micromapping - Indiapp g
INDIA (many religions and cultures)
● 50,000 – 60,000 , ,strictly indigenous communities
● Expected/anticipated annual births with
iserious Hbpathies:32,400
Countries with a national program for prevention
Middle - East• Tunisia
Asia• Thailand
• Lebanon• Jordan
• Maldives• Malaysia
• Iran• Bahrain
y• Taiwan• Singapore
• Saudi Arabia• UAE
g p• Hong Kong
UAE• Kuwait• QatarQatar
Countries where a national program for prevention is being negotiated by TIF
Expected affected births Country• Albania
pper year
35• Bulgaria• Romania
115
• Azerbaijan 2 03
Countries where a national program for prevention is being negotiated by TIF
Expected affected births Country• Algeria
pper year
123g• Morocco• Egypt
146400-1300gyp
• Syria• Palestine
32775
• Iraq• Pakistan
5022891Pakistan
• Yemen2891145
Countries where a national program for prevention is being negotiated by TIF
Expected affected births Country• China (5 provinces)
pper year
1879( p )• India• Bangladesh
152316435g
• Nepal• Sri-Lanka
84880
• Indonesia• Cambodia
96191753Cambodia
• Philippines175392
Screening
The timely identification of carriersThe timely identification of carriers at risk
B f iBefore screening
Do a survey or use existing data to know h t th l i d i twhat thalassaemia genes and variants
are found in your population and the ffrequency.Interactions of these genes may alter the g yhaematological expression/ lab findings – source of confusion and error.
Health education / pre-Health education / pre-screening counselling
Education of the public – they must be aware f h th b i d
g g
of why they are being screenedThey must be told what thalassaemia isWhat is the life of a homozygote likeWhat are the chances of being a carrierWhat are the chances of being a carrierThe consequences when two carriers marryThe right not to know is respected
European Council Convention on HumanEuropean Council Convention on HumanRights and Biomedicine
P l ti iPopulation screening
Decide policy:
When to screen?Who to screen?Who does the screening – which labs.?What laboratory techniques?
Whi h l b t i ?Which laboratories?
Reference laboratoryRed cell counter, HPLC, Cap electrophoresis, molecularp ,
P i h l H it lPeripheral Hospital lab: Indices, A2,
gel electrophoresis
Field lab OF, DCIP
Primary care labOF, DCIP, indicesg p
Th f l b tThe reference laboratoryMeasurement of haematological indices using automated counters.Red blood cell morphology.p gyHigh Performance Liquid chromatography (HPLC) for haemoglobin analysis or Capillary(HPLC) for haemoglobin analysis or Capillary Electrophoresis.Preparation of haemolysate from whole bloodPreparation of haemolysate from whole bloodElectrophoretic techniques.
a)a) Separation andSeparation and quantitationquantitation ofof haemoglobinshaemoglobins bybya)a) Separation and Separation and quantitationquantitation of of haemoglobinshaemoglobins by by cellulose acetate electrophoresis with elution buffecellulose acetate electrophoresis with elution buffeat pH 8.4at pH 8.4
b)b) A l l t h i t H 6 3A l l t h i t H 6 3b)b) Agar gel electrophoresis at pH=6.3Agar gel electrophoresis at pH=6.3
M l l t diMolecular studiesTo finalise the diagnosis DNA studies are carriedTo finalise the diagnosis DNA studies are carried out in the following cases:
1. Individuals suspected for α-thalassaemia2. Couples suspected for H-disease3. Couples suspected for hydrops-foetalis4. Cases suspected for H-disease/β-thalassaemia5. Cases with borderline HbA2 levels, low indices
and when family studies are not available6. When the biosynthetic ratio indicates the
presence of any α or β thalassaemia mutation
S i l ithScreening algorithm
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