Roberta Gualtierotti, Isabella Garagiola, Mimosa Mortarino, Silvia Spena, Olivia Romero-Lux, Flora Peyvandi
Hemophilia is a rare bleeding disorder caused by a genetic defect on chromosome X. It is inherited as an X-linked trait, and hence, it is more frequently diagnosed in males, whereas women have been traditionally considered only as carriers of the disease. However, the role of women in families of patients with hemophilia is pivotal. As mothers, sisters, daughters, and female partners of patients with hemophilia, they play a central role in the management of the patient, considering healthcare, social, and familial aspects, but they might be affected by the disease as well, particularly in regions where consanguinity is frequent...
2024: Frontiers in Medicine