Female Hemophilia A Carriers Might Benefit From Earlier Care

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Hemophilia A is seen as a male-only disease, but this study shows the extent to which female carriers also suffer from bleeding and joint problems related to reduced levels of clotting factors VIII.

©Rudzhan  stock.adobe.dom

©Rudzhan stock.adobe.dom

Hemophilia A primarily affects males, but female carriers of the inheriteddisorder don’t escape its effects. They tend to have lower levels of clotting factor VIII and, as a result, a variety of bleeding problems.

The authors of a recently published study sought to quantify the health problems and related costs experienced by female carriers, which are often overlooked because hemophilia A is viewed as a male-only disease.

“Health issues of carriers are often discovered later in life, such as during pregnancy,” a team of specialists led by Shan Xing, Pharm.D., Ph.D., wrote in this month’s Journal of Managed Care and Specialized Pharmacy. “An earlier diagnosis may help decrease carriers’ health issues and associated costs.”

Xing and several of the co-authors are employees of Takeda, which makes and markets a hemophilia A treatment, Adynovate (antihemophilic Factor (Recombinant), PEGylated).

In this retrospective study, the authors examined healthcare records for female carriers with hemophilia A and noncarriers with a similar socioeconomic profile. Women with a clotting factor mutation in just one of their two X chromosomes are considered carriers. Men who have an X chromosome mutation are considered to have hemophilia because they do not have a normal, backup X chromosome.

Health records from both commercial payers and Medicaid were included in the comparison. The researchers used the IBM MarketScan Commercial Claims Encounters and Multi-State Medicaid databases from Jan. 1, 2016, through Sept. 30, 2019.

Prior to this study it had been widely observed that a portion of hemophilia A carriers will have symptoms ranging from mild to severe that include nosebleeds, bruising, heavy menstrual periods, bleeding after injury and bleeding into joints, although female carriers may not be aware that their symptoms are related to hemophilia A.

Xing and colleagues reported that hemophilia A carriers had more joint-related issues (commercial: 13.2% vs 17.4%; Medicaid: 7.3% vs 4.5%) Billed annualized bleed rates (commercial: 0.49 vs 0.33; Medicaid: 0.50 vs 0.29) also were higher in the carrier group.

The researchers also found more carriers had minor bleeds (commercial: 34.7% vs 22.3%; Medicaid: 43.6% vs 20.0%) and spontaneous bleeds (commercial: 35.5% vs 21.5%; Medicaid 47.3% vs 23.6).

For the carrier cohort, healthcare resource utilization was predominantly in the outpatient setting for all-cause or bleed-related claims.

In commercial and Medicaid healthcare databases, all-cause healthcare costs were twice as high for carriers than for the control group (Commercial: $15,345 vs $8,358 per patient per year (PPPY); Medicaid: $9,022vs $4,533 PPPY).

“These data suggest that hemophilia A carriers have a high disease and economic burden and may benefit from early diagnosis and management to prevent long-term complications,” the authors wrote.

Use of hormonal contraceptives between carrier and control groups was roughly similar, yet contraceptives can help control menstrual bleeding and seem to be underused in the carrier population, the authors observed.

“Hemophilia A carriers’ most prevalent symptom of heavy menstrual bleeding is often overlooked by general practitioners and gynecologists. Hemophilia carriers are rarely referred to a hematologist and face unique challenges during their reproductive years,” the authors wrote.

Higher use of tranexamic acid and antianemia medication among carriers suggests they are being “treated on-demand for persistent heavy bleeding,” which also suggests advance management of their symptoms may not be a factor in their care, the authors wrote.

“Hemophilia A carriers may experience a delay in diagnosis” which for some occurs only at the time of pregnancy because of increased healthcare interaction, they noted.

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