Hematology & Oncology
Hemophilia: A Rare, but Treatable Condition
A rare bleeding disorder, hemophilia occurs because blood does not clot normally and can result in prolonged and/or internal bleeding. Though hemophilia can be acquired, it is most commonly inherited, known as congenital hemophilia. It is often diagnosed at birth.
The two most common types of congenital hemophilia are A and B, explains hematologist/oncologist Frank Rodriguez, M.D. The difference between the two is the clotting factors in the blood and whether they are abnormal or absent. Hemophilia is linked to the X-chromosome, which means it almost always occurs in males and is passed from mother to son through one of mom s genes. Women who carry the hemophilia gene usually do not exhibit signs or symptoms of the condition, but do risk passing it on to sons.
In people without hemophilia, clotting factors in the blood help platelets which are small blood cell fragments that form in the bone marrow stick together and adhere to the edges of an injury to minimize bleeding. Deficiencies or the absence of the clotting factors can result in even small wounds, cuts or abrasions continuously bleeding. An additional concern is internal bleeding in joints, like the knees and ankles, which can result in joint dysfunction and/or arthritis.
With regard to the treatment of hemophilia A, we must replace the missing clotting factor, Dr. Rodriguez says. Historically, we would treat on-demand when a patient was bleeding. But, studies show that preventative treatment called replacement therapy, which is either done on a regular basis to prevent bleeding or to stop bleeding when it occurs results in fewer complications and a better quality of life.
Dr. Rodriguez says hemophilia can be controlled, but notes that there isn t a cure yet. It is unclear today if we will be able to cure hemophilia, he says. But, genetic therapy may offer the opportunity to transfer normal genes to those who carry the abnormal gene, so the body can make the necessary coagulation factor. We aren t there yet, but it is the next frontier.
Amnio vs. Genetic Blood Testing
Frank Rodriguez, M.D.
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