Jorge Di Paola, M.D., a pediatric hematologist/oncologist and director of the Hemophilia Treatment Center at University of Iowa Children's Hospital, says mostly males are affected with hemophilia since the genetic transmission of the disease is from mothers that carry the defective gene to boys. In very rare occasions girls could also be affected.

Hemophilia is diagnosed with a blood test. "Usually patients or the patient's parents consult a physician because of excessive bleeding, for example joint bleeds or bleeding after circumcision. The physician then asks for a blood sample where coagulations factor 8 or 9-the ones that can be absent or decreased in hemophilia-can be measured, says DiPaola. The diagnosis is made when levels are below normal values.

"Hemophilia A is the deficiency of factor 8 while hemophilia B is the deficiency of factor 9. Clinically they are indistinguishable. Therefore the final diagnosis is made with the appropriate blood test. It is important to make the correct diagnosis since treatments are different," he says.

It is treated by replacing the deficient factor. Either factors 8 or 9 are available in the US. "They can be obtained from normal plasma from blood donors or they are made in the laboratory (those are called recombinant products). The treatment could be directed to stop the bleed once it started (on demand) or it can be given in a preventive way (two to three times a week or before sports events).

"It is our hope and a lot of research is directed to it, that in the future we will have gene therapy for this disease. Gene therapy involves inserting a normal factor 8 or 9 gene in place of the "defective" gene, thereby curing the disease instead of replacing the factor.

"Hemophilia is a chronic disease with several issues that range from medical needs to medical insurance problems. It requires a comprehensive approach in order to treat it appropriately," says DiPaola. "It has been demonstrated that comprehensive care improves quality of life and life span of hemophilia patients. The Hemophilia Treatment Center at University of Iowa Children's Hospital Hospitals and Clinics is the only federally funded center in the state and one of the leading centers in the country.

"Comprehensive care means that the patient is seen not only by a doctor but by a team of health specialists including specialized nurses, physical therapist, social worker, dentist and psychologist that address all aspects of care in a more comprehensive way. Most of our patients are seen once a year in the comprehensive clinic."

The University of Iowa is currently enrolled in 17 clinical trials.

For more information:

Jorge Di Paola, M.D.

University of Iowa Children's Hospital

Hemophilia Treatment Center

Clinical Trials