Nishad AAN

Premawardhena A
SLMA sessions 2010
Colombo, Sri Lanka
1st June 2010
 Introduction
 Thalassemia is an inherited autosomal
recessive blood disease.

 The commonest single gene disorder in the

world
 In Sri Lanka
 2.2% population β thalassaemia carriers
 2000 known homozygous (major) patients
 62 homozygous births annually
Introduction

 Estimated cost 5% of annual health

budget
( S de Silva et al 2000 Lancet)

 Prevention of new births is

essential
 Prevention

 Strategy for Sri Lanka ( NTC)

promotion of “ safe marriages”

 Make people aware of

thalassaemia status before
marriage
“safe” partner selection
Who to screen

 Most likely to have it

 Prior to marriage/decision regarding

pregnancy

 Most likely to have includes

immediate relatives of patients/
carriers
“Cascade screening”
Gold standard

 Screening for thalassaemia using

HPLC available in Ragama since
2003 February
 Methanata photo ekak danna
Objective

 To evaluate
 parental awareness regarding the
genetic nature of disease
 cascade screening in families with a
child with Thalassaemia major.
(In selected centers where a
diagnosis , treatment and
counseling was available)
Materials and methods

Where?
 Ragama and Kurunegala

Whom?
 Thalassaemia major patients’
parents

How?
 A self-administered questionnaire
Results

 Mean age patients=13 years (S.D.=7.3)

 Male patients =58%

Mothers Fathers Significa

nce

Knew their carrier state 91% 73% <.01

Knew their carrier state 88% 64% <.01

caused the illness to the
child
Cascade screening of the sample

Parent Siblings Spouses Children

Mother’s 10.8% (n=382) 3.6% (n=334) 6.7% (n=714)

Father’s 5% (n=297) 6% (n= 248) 3.77%(n=610)

Total 8% (n=679) 4.6%(n=582) 5.3%(n=382)

Conclusions

 Screening of relatives of children

with thalassaemia at present seems
to be very limited.

 Fathers and their relatives seem

weaker
References

 Xu X M etal ,J Clin Pathol, The prevalence and spectrum of α

and β thalassaemia in Guangdong Province: implications for
the future health burden and population screening, 2004 May;
57(5): 517–522.

 Lamabadusuriya P
http://healthedu.gov.lk/Presentation/Prevention%20of
%20Thalassaemia2.ppt.
 
  Model B, Bull World Health Organ, Global epidemiology of
haemoglobin disorders and derived service indicators, 2008
June; 86(6): 480–487.
Acknowledgement

 To all patients and parents

 Staff of both units
 Mr.Gayan Sampath at National
Thalassaemia centre, Kurunegala.