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Title: Frequency of carrier screening and preventive orientation among first degree relatives of Thalassaemia patients
Authors: Seemab Hashim , Mohsin Sarwar , Armish Arsalan , Isma Awan , Sajida Naseem
Journal: Journal of Pakistan Medical Association
Publisher: Pakistan Medical Association.
Country: Pakistan
Year: 2018
Volume: 68
Issue: 1
Language: English
Keywords: AttitudeAwarenessPreventionGenetic diseaseThalassaemiaCarrier screening
Abstract
Objective: To get preliminary data regarding the prevention of thalassaemia major in future generations.
Methods: This Knowledge Attitude Practices study was conducted at Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from January to June 2016, using non-probability purposive sampling. Parents of children undergoing transfusion were interviewed. Questionnaires were used to collect demographics and data about awareness, attitude and frequency of screening among the first degree relatives of a thalassaemia major patient. SPSS 20 was used for data analysis.
Results: Of the 270 respondents 240(88.9%) had utilised screening services for their asymptomatic children and had a positive attitude towards prevention, but 30(11.1%) families did not screen asymptomatic children for thalassaemia minor. Besides, 49(18.1%) families had more than one thalassaemia major child in their nuclear family, while, 3(1.1%) were unwilling to let their children undergo tests. Nine (3.3%) respondents said they will not ask a prospective daughter/son-in-law to get tested for thalassaemia minor, while 194(71.9%) respondents had had cousin marriages.
Conclusion: There were significant gaps in awareness among affected families.
Keywords: Thalassaemia, Awareness, Attitude, Carrier screening, Genetic disease, Prevention.
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