Prevalence of symptoms in hemophilia carriers in comparison with the general population: a systematic review

Hirayama, André Bubna; Silva, Alline Karolyne Cândida da; Rocha, Jordanna Sousa; Roberti, Maria do Rosário Ferraz

doi:10.1016/j.htct.2019.02.006

Cited by 14 publications

(13 citation statements)

References 22 publications

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“…Medical history should include history of bleeding after previous surgery or trauma, drug history, family history of bleeding abnormalities and symptoms associated with potential bleeding disorders. Diagnostic laboratory investigations in hemophilia B can be a prolonged activated partial thromboplastin time (aPTT), normal bleeding time (BT), normal prothrombin time (PT) and low factor IX [4].…”

Section: Discussionmentioning

confidence: 99%

“…The presentation varies according to the severity of the disease. The prevalent symptom is spontaneous or post-traumatic hemorrhage, musculoskeletal bleeding being the most common [3]. We are reporting a case of hemophilia B in a 3-month-old male infant with unusual presentation, with multiple body sites mass swellings, found to show atypical features of hemangiomas, initially diagnosed, and treated as a case of cellulitis.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Initial Presentation of Haemophilia B in a 3-month-old Infant - A Case Report and Literature Review

Mohamed¹,

Ghazy²,

AlAmiri³

et al. 2022

MPPCHC

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Initial Presentation of Haemophilia B in a 3-month-old Infant - A Case Report and Literature Review

Mohamed¹,

Ghazy²,

AlAmiri³

et al. 2022

MPPCHC

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“…4 Haemophilia heterozygotes have increased rates of excessive bleeding with surgery, tooth extraction, and delivery, as recently reviewed. 1,12 FVIII and FIX levels in heterozygotes have been reported…”

Section: Discussionmentioning

confidence: 99%

“…Haemophilia heterozygotes have increased rates of excessive bleeding with surgery, tooth extraction, and delivery, as recently reviewed 1,12 . FVIII and FIX levels in heterozygotes have been reported to correlate inversely with bleeding scores in some studies; 9,13 however, these correlations were relatively weak.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2021

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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.

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“…Female carriers of haemophilia, an X‐linked recessive disorder, have one normal and one abnormal allele of the factor VIII (FVIII; haemophilia A) or factor IX (FIX; haemophilia B) gene 1,2 . Carriers may be obligate or possible carriers of haemophilia, depending on whether they have inherited the haemophilia gene from their father or mother, respectively 3 .…”

Section: Introductionmentioning

confidence: 99%

Women and girls with haemophilia and bleeding tendencies: Outcomes related to menstruation, pregnancy, surgery and other bleeding episodes from a retrospective chart review

et al. 2020

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Introduction Women or girls with haemophilia (WGH) represent a group of female symptomatic carriers who experience bleeding events more frequently than non‐carriers. Bleeding events include spontaneous/traumatic bleeds and prolonged bleeding related to surgery, menstruation and pregnancy. Challenges for the treatment of WGH include lack of screening, diagnosis and treatment guidelines. Aim Evaluate clinical characteristics, haemostasis management and clinical outcomes regarding menstruation, childbirth, dental procedures, surgeries and other bleeding events in WGH. Methods A retrospective, non‐interventional review of medical records from WGH among three haemophilia treatment centres (HTCs) was conducted in the United States (2012–2018). Patients with ≥2 visits to the HTC and who had undergone intervention for haemostasis management with the outcome documented were included. Descriptive statistics were used. Results Of 47 women and girls included in the chart review (37 with factor VIII deficiency, 10 with factor IX deficiency), median age at diagnosis was 22.6 years. Approximately 79% (n = 37) were diagnosed with mild haemophilia. Events of interest were primarily managed by factor concentrates or antifibrinolytics. Most treatment approaches were successful across clinical scenarios, except for heavy menstrual bleeding being insufficiently controlled in 8 (57%) of the 14 patients who experienced it. Conclusions Bleeding events in WGH, such as excessive and prolonged bleeding during menstruation, demonstrate a unique burden and require specific medical intervention. These results highlight the importance of assessing the need for haemostasis management in WGH and may contribute to future prospective study designs.

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Prevalence of symptoms in hemophilia carriers in comparison with the general population: a systematic review

Cited by 14 publications

References 22 publications

Initial Presentation of Haemophilia B in a 3-month-old Infant - A Case Report and Literature Review

Initial Presentation of Haemophilia B in a 3-month-old Infant - A Case Report and Literature Review

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

Women and girls with haemophilia and bleeding tendencies: Outcomes related to menstruation, pregnancy, surgery and other bleeding episodes from a retrospective chart review

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