Related Experiment Video
Updated: Feb 15, 2026
Patient-specific Modeling of the Heart: Estimation of Ventricular Fiber Orientations
Published on: January 8, 2013
Frequency of carrier screening and preventive orientation among first degree relatives of Thalassaemia patients
Seemab Hashim1, Mohsin Sarwar1, Armish Arsalan1
1Shifa College of Medicine, Islamabad.
Insights
Many families with thalassemia major children utilize screening, but significant awareness gaps persist regarding prevention. Cousin marriages and lack of premarital screening hinder efforts to prevent future generations from inheriting thalassemia.
Area of Science:
- Medical Genetics
- Public Health
Background:
- Thalassaemia major is a severe genetic blood disorder.
- Prevention strategies are crucial for reducing its incidence in future generations.
Purpose of the Study:
- To gather preliminary data on preventing thalassaemia major.
- To assess awareness, attitudes, and practices regarding thalassemia screening.
Main Methods:
- A Knowledge Attitude Practices (KAP) study was conducted.
- Data collected via questionnaires from parents of children with thalassemia major.
- Non-probability purposive sampling used at Pakistan Institute of Medical Sciences.
Main Results:
- 88.9% of respondents screened asymptomatic children, showing a positive attitude towards prevention.
- 11.1% did not screen asymptomatic children; 18.1% had multiple affected children.
- 71.9% reported cousin marriages, and 3.3% would not require premarital thalassemia screening.
Conclusions:
- Significant gaps in awareness regarding thalassemia prevention exist among affected families.
- Limited premarital screening and high rates of consanguineous marriages contribute to the burden of thalassemia major.
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.
Conclusions:
There were significant gaps in awareness among affected families.
Related Concept Videos
01:14Relative Frequency Histogram
00:55Relative Frequency Distribution
01:24Electron Carriers
Over the many stages of cellular respiration, glucose breaks down into carbon dioxide and water. Electron carriers pick up electrons lost by glucose in these reactions, temporarily storing and releasing them into the electron...
01:24One-Degree-of-Freedom System
A one-degree-of-freedom system is defined by an independent variable that determines its state and behavior. One example of a one-degree-of-freedom system is a simple harmonic oscillator, such as a...
01:02Degrees of Freedom
For example, suppose there are three unknown numbers whose mean is 10; although we can freely assign values to the first and second numbers, the value of the last number can not be arbitrarily assigned.
01:02Degrees of Freedom
For example, suppose there are three unknown numbers whose mean is 10; although we can freely assign values to the first and second numbers, the value of the last number can not be arbitrarily...