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South African Journal of Child Health

On-line version ISSN 1999-7671
Print version ISSN 1994-3032

Abstract

NAICKER, T; ALDOUS, C  and  THEJPAL, R. Haemophilia: A disease of women as well. S. Afr. j. child health [online]. 2016, vol.10, n.1, pp.29-32. ISSN 1999-7671.  http://dx.doi.org/10.7196/sajch.2016.v10i1.961.

BACKGROUND: While haemophilia is a disease phenotype in males only, it has an effect on females too. In South Africa, there is no documentation on the views and experiences of haemophilia carrier mothers regarding the disease, or about their response to carrier testing for daughters or other female members of their families. The burden of child care may fall entirely on the mother in some cultures, and having a son with haemophilia may make coping difficult. Knowing their carrier status would allow daughters of carrier mothers to be aware of the chances of themselves having a son with haemophilia. Knowing their own factor levels may also be useful in understanding possible excessive bleeding in themselves. OBJECTIVES: To record the experiences of haemophilia carrier mothers in KwaZulu-Natal and their attitudes and opinions on carrier testing for female members of their families. METHODS: Forty mothers ofhaemophiliac sons were interviewed using a structured questionnaire specifically designed and tested for this study. RESULTS: From this cohort, there were 21 potential carrier daughters and 25 potential carrier sisters who would be eligible for further testing and counselling. All the study participants expressed their desire to have carrier testing available for female family members. They also expressed their concerns regarding raising a son with haemophilia, including some culture-specific issues. CONCLUSION: A diagnosis of haemophilia carriership is seen by mothers of haemophiliac sons as important for female members of their families. A protocol for the care of haemophilia carrier women is therefore necessary.

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