
Assessing the quality of life of family members of patients with hemophilia A (HA) is necessary given the emotional overload and dedicated care of their family members. The 36-item Short Form Health Survey (SF-36) measure quality of life related to health using eight health concepts: physical functioning (PF), limitations due to physical health (PH), pain (P), general health (GH), energy/fatigue (EF), social functioning (SF), limitations due to emotional problems (EP), and emotional well-being (EW). The aim of this study was to analyze the quality of life profile of family members of patients with severe hemophilia A with intron 22 inversion mutation treated at Fundação Hemominas. To date, sixteen participants have been enrolled in the study after signing an informed consent form. Participants answered a 36-item short health questionnaire and collected peripheral blood samples in citrate tubes. Samples were processed for DNA extraction and genotyping. Participants were divided into two groups: Carriers of the intron 22 inversion and participants who were not carriers of the intron 22 inversion mutation. Among carriers the median (MED) scores were: 88% (IQR 77.5%-96%) for PF; 100% (IQR 56.3%-100%) for PH; 61% (IQR 61%-72%) for P; 87% (IQR 77%-92%) for GH; 60% (IQR 38.8% - 66.3%) for EF; 69% (IQR 47% - 75%) for SF; 100% (IQR 24.8% - 100%) for EP; and 70% (IQR 59% - 76%) for EW. Among participants who were not carriers, 93% (IQR 81.3% - 95%) for PF; 88% (IQR 18.8% - 100%) for PH; 72% (IQR 58.3% - 88%) for P; 67% (IQR 47%-80.3%) for GH; 58% (IQR 41.3%-70%) for EF; 69% (IQR 52.8%-91%) for SF; 84% (IQR 0%-100%) for EP; and 68% (IQR 54%-78%) for EW. Interestingly, carriers presented a significant higher score in general health domain (p = 0.03). In conclusion, this study is important to assess the quality of life in relatives (carriers and non-carriers) of HA patients. This is an ongoing project and the number of participants needs to be increased in order to draw conclusions. We thank all participants, Fapemig, Fundação Hemominas, and the CGSH of the Ministry of Health.