Knowledge and attitudes towards haemophilia: the family side and role of haemophilia societies.

Objectives: A pilot study to evaluate the knowledge about haemophilia in the families enrolled in the Lucknow Haemophilia Society (India), and to assess their attitudes towards prenatal diagnosis (PND).

Methods: A questionnaire to assess the knowledge about haemophilia (questionnaire A) and another questionnaire to assess the attitude towards PND (questionnaire B) were distributed. PND was performed by DNA-based linkage analysis.

Carrier analysis and prenatal diagnosis of haemophilia A in North India.

The feasibility of DNA diagnosis for haemophilia A in North India was evaluated using intragenic polymorphic DNA markers in factor VIII gene for linkage analysis as well as direct detection of inversion mutation in intron 22 of the gene. The informativity of RFLP (HindIII, BclI and XbaI) and STR (introns 13 and 22) markers for linkage analysis in factor VIII gene was determined in 100 normal individuals. The observed heterozygosity for RFLP markers HindIII, BclI and XbaI was 0.