Social Survey of Cases With Hemophilia A and Their Families in North India and Their Attitudes to Carrier Testing

ORIGINAL ARTICLE

Syed Tasleem Raza^1, Nuzhat J Fareedi² and Nuzhat Husain²

Affiliations: ¹Department of Biotechnology, Manipal University Dubai Campus, Block-7 Academic City Dubai, UAE and ²Genetics Lab, Department of Pathology, CSM Medical University, Lucknow 226003, Uttar Pradesh, India

ABSTRACT

OBJECTIVES
Implementation of a DNA-based carrier testing for the prevention of genetic diseases in a population is targeted toward technology development, personnel training, and technique perfection. In the current study we had focused on a group of cases with hemophilia A and their relatives at risk from North India who were being subjected to counseling for a carrier diagnosis.

METHODS
A cross-sectional study was conducted. The data was collected from different Chapters of the Hemophilia Federation of India (HFI) including Lucknow, Jammu, Ahmedabad, Baroda, Surat, and Rajkot. The study population was divided into two groups. Group 1, 60 cases with hemophilia A (Table 1) and Group 2, family members including relatives at risk. Group 2 comprises 199 females and 74 males (Table 2).

RESULTS
About 73% of patients had discussed hemophilia A inheritance with someone in the past. A majority of patients’ (48%) belief that, by chance, relatives could have a child with hemophilia were medium. Nearly 71% had discussed carrier testing with relatives in the past and over 90% realized the obligation to inform relatives about the availability of genetic testing. About 88% of cases considered hemophilia A as a severe or very severe disease. Only 25% of the patients felt that queries from relatives were an invasion of their privacy. Most of the relatives were married (100% in males and 73% in females). The majority (58%) of relatives has household income of less than 25,000 INR per annum.

CONCLUSION
It appears that this participation helped in increased awareness as well as acceptance of the disease, generated confidence in patients and families, and developed an open approach to newer modalities of treatment and prevention.

Keywords: hemophilia A, social awareness, genetic counseling, carrier diagnosis

Correspondence: Syed Tasleem Raza, Department of Biotechnology, Manipal University Dubai Campus, PO Box 345050, Dubai, UAE. Tel: +971 4 4291214; Fax: +971 4 522 3694541; e-mail: tasleem24@gmail.com