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What is hemophilia?

Hemophilia is an X-linked genetic disorder. This means that while women can be carriers of the genetic disorder, they are very rarely diagnosed with the disorder. According to the Centers for Disease Control and Prevention (CDC), Hemophilia occurs among about 1 of every 5,000 male births. Currently, about 20,000 males in the United States have the disorder. Hemophilia A is about four times as common as hemophilia B, and about half of those affected have the severe form. Hemophilia affects people from all racial and ethnic groups.

Hemophilia is defined as an inherited bleeding disorder in which the blood does not clot properly. Blood contains many proteins called clotting factors that help to stop bleeding. These factors are numbered from 1 through 13, using roman numerals (such as I, IV, or X). People with hemophilia have either a low level of these clotting factors or none at all. The lower the level, the more serious the hemophilia, and problems such as bleeding without obvious cause or bleeding following injuries or surgery is more likely.

Hemophilia is grouped into two categories:
  • Hemophilia A (Classic Hemophilia) – this type is caused by a lack or decrease of clotting factor VIII (8).
  • Hemophilia B (Christmas Disease) – this type is caused by a lack or decrease of clotting factor IX (9).

What causes hemophilia?

Hemophilia is caused by a problem in one of the genes that tells the body to make the clotting factor proteins needed to form a blood clot. These genes are located on the X chromosome. All males have one X and one Y chromosome (XY) and all females have two X chromosomes (XX).

Males who inherit an affected X chromosome have hemophilia. Rarely, a condition called “female hemophilia” occurs. In such cases both X chromosomes are affected, or one is missing or inactive. In these women, bleeding symptoms may be similar to males with hemophilia.

A female who inherits one affected X chromosome becomes a “carrier” of hemophilia. A female who is a carrier sometimes can have symptoms of hemophilia. In addition, she can pass the affected gene on to her children. Even though hemophilia is genetic, it does occur among families with no prior history. About one-third of newly diagnosed babies have no family history of hemophilia. These cases are thought to be due to a change to the gene’s instructions for making the clotting factor protein, called a “mutation.” This change or mutation can prevent the clotting protein from working properly or to be missing altogether.

How is hemophilia diagnosed?

Diagnosis includes screening tests and clotting factor tests. Screening tests are blood tests that show if the blood is clotting properly. Clotting factor tests, also called factor assays, are required to diagnose a bleeding disorder. This blood test shows the type of hemophilia and the severity.

What to expect?

Many people who have or have had family members with hemophilia will ask that their baby boys get tested soon after birth. About one-third of babies who are diagnosed with hemophilia have no other family members with the disorder. A physician may check for hemophilia if a newborn is showing certain signs of hemophilia.

How is hemophilia treated?

The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is done by injecting commercially prepared clotting factor concentrates into a person’s vein. Hemophilia is a complex disorder. Good quality medical care from physicians and nurses who specialize in the condition can help prevent some serious problems. Often the best choice is a comprehensive Hemophilia Treatment Center (HTC). An HTC provides care to address all issues related to the disorder, as well as comprehensive education.

How can a specialty pharmacy help?

Kroger Specialty Pharmacy's total life care programs set a clear path to caring, compassionate therapy management and support.

Kroger Specialty Pharmacy is able to provide hemophilia patients, providers and partners with the necessary coordination of care vital to achieving successful treatment outcomes. By utilizing our expert patient care team comprised of Doctors of Pharmacy, registered pharmacists and nurses, reimbursement specialists and dedicated Patient Care Coordinators (PCCs), we are able to offer each and every patient and partner with high-quality, personalized care, ongoing patient evaluation and clinical support including frequent patient follow-up and continual education about their hemophilia treatment.