Parental awareness and cascade screening for Thalassaemia1

Parental awareness and cascade screening for Thalassaemia. :

Parental awareness and cascade screening for Thalassaemia. Nishad AAN Premawardhena A SLMA sessions 2010 Colombo, Sri Lanka 1 st June 2010

Introduction :

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:

Introduction Estimated cost 5% of annual health budget ( S de Silva et al 2000 Lancet) Prevention of new births is essential

Prevention :

Prevention Strategy for Sri Lanka ( NTC) promotion of “ safe marriages” Make people aware of thalassaemia status before marriage “ safe ” partner selection

Whom to screen ?:

Whom 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”:

“ Cascade screening”

Gold standard:

Gold standard Screening for thalassaemia using HPLC available in Ragama since 2003 February Methanata photo ekak danna

Objective :

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 :

Materials and Methods Where? Ragama and Kurunegala Whom? Thalassaemia major patients’ parents How? A self-administered questionnaire

Results:

Results Mean age patients=13 years (S.D.=7.3) Male patients =58% Mothers Fathers Significance Knew their carrier state 91% 73% <.01 Knew their carrier state caused the illness to the child 88% 64% <.01

Results:

Results Mean age patients=13 years (S.D.=7.3) Male patients =58%

Cascade screening of the sample:

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 :

Conclusions Screening of relatives of children with thalassaemia at present seems to be very limited. Fathers and their relatives seem weaker Is it the social stigma?

References:

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 :

Acknowledgement To all patients and parents Staff of both units Mr.Gayan Sampath at National Thalassaemia centre, Kurunegala .