Women and girls with haemophilia receiving care at specialized haemophilia treatment centres in the United States

Abstract

Introduction: Females may have haemophilia with the same factor VIII (FVIII) or factor IX (FIX) levels as affected males. Characterization of females with haemophilia would be useful for health care planning to meet their unique needs. Federally-funded haemophilia treatment centres (HTCs) in the United States contribute data on all individuals with bleeding disorders receiving care to the Population Profile (HTC PP) component of the Community Counts Public Health Surveillance of Bleeding Disorders project. Aims: To estimate the number of females with haemophilia receiving care at HTCs in the United States and compare their characteristics with those of males with haemophilia. Methods: HTC PP data collected on people receiving care at an HTC from January 2012 through September 2020 with haemophilia A and B were evaluated by sex for demographic and clinical characteristics.Results: A factor level < 40% was reported for 23,196 males (97.8%) and 1667 females (47.6%) attending HTCs; 51 (.48%) severe, 79 (1.4%) moderate, and 1537 (17.9%) mild haemophilia patients were female. Females were older, more often White, and less often non-Hispanic than males. Females were less likely to have history of HIV or HCV infection, even among those with severe disease, but twice as likely to have infection status unknown. Females with mild haemophilia were more often uninsured than males.Conclusions: Females with severe or moderate haemophilia are uncommon, even in specialized care centres; however, almost one in five patients with mild haemophilia was female, indicating needs for specialized care based on factor level and history for affected females.

The emotional experience of mothers of children with haemophilia: maternal guilt, effective coping strategies and resilience within the haemophilia community

“…The mean age was 41.6 years (21, 74), and the mean age of their affected child(ren) was 13.3 years (6 months, 25) (Table 1). Compared to other studies with a similar target population, our group has a comparable demographic breakdown 1–4,7,19 . Our population has a more significant African American population, a significant educated population, and includes biological and non‐biological mothers.…”

Therapeutic and technological advancements in haemophilia care: Quantum leaps forward

“…This bias has often led to suboptimal clinical care and precluded women and girls with haemophilia (WGH) from clinical trial participation. Community Counts, the US surveillance database for bleeding disorders, reported that 0.5% of severe, 1.4% of moderate, and ∼20% of mild PwHA were female 60 …”

“…Community Counts, the US surveillance database for bleeding disorders, reported that 0.5% of severe, 1.4% of moderate, and ∼20% of mild PwHA were female. 60 Recently, a new haemophilia female nomenclature was established by the International Society on Thrombosis and Haemostasis, considering FVIII and FIX plasma levels and bleeding phenotype. Consistent with males with haemophilia, females with low FVIII or FIX plasma levels of <0.01, 0.01-0.05, and >0.05-< 0.4 IU/ml were defined as having severe, moderate, and mild haemophilia, respectively.…”

The Clinical Genetics of Hemophilia B (Factor IX Deficiency)

“…Although females with severe or moderate HB are quite rare, women and girls made up 24% of individuals with mild HB seen for care at US HTCs. 44 The genetic causes of hemophilia in those women and girls among whom a causative variant has been identified have recently been reviewed. 12 They include homozygosity (two copies of the same hemophilia-causing variant), compound heterozygosity (two different hemophilia-causing variants in trans), hemizygosity (a single hemophilia-causing variant with no normal allele), and heterozygosity (one hemophilia-causing variant and one normal allele).…”