Molecular genetic study of hemophilia B in an Algerian population

Hemophilia B is inherited as x-linked recessive disorder, carried by females, where males are affected.Rare cases of females affected with hemophilia B are known. This is also known as factor IX (FIX)deficiency, or "Christmas disease", originally named after Stephen Christmas; the first patient wasdescribed with this disease in 1952. It is characterized by spontaneous or prolonged hemorrages due tofactor IX deficiency. Factor IX mutations have not been previously reported in Algerian patients. Tounderstand the molecular basis of hemophilia B in Algeria, polymerase chain reaction (PCR) and directsequencing have been applied to be the important regions of the factor IX gene from 11 patients; weidentified 2 point mutations. Mutations identified in our patients was linked with disease severity.Complications are problems that develop during treatment of the disease. Inhibitor (alloantibodies toexogenous factor XI) development is currently the most significant treatment complication. In thisstudy, we evaluated the relationship between inhibitor development and FIX gene mutation types. Insummary, our preliminary results will be used to build an Algerian mutation database which wouldfacilitate genetic counseling.Key words: Hemophilia B, factor IX gene, mutation, inhibitors