Molecular genetic study of hemophilia B in an Algerian population

Abstract

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 was
described with this disease in 1952. It is characterized by spontaneous or prolonged hemorrages due to
factor IX deficiency. Factor IX mutations have not been previously reported in Algerian patients. To
understand the molecular basis of hemophilia B in Algeria, polymerase chain reaction (PCR) and direct
sequencing have been applied to be the important regions of the factor IX gene from 11 patients; we
identified 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 to
exogenous factor XI) development is currently the most significant treatment complication. In this
study, we evaluated the relationship between inhibitor development and FIX gene mutation types. In
summary, our preliminary results will be used to build an Algerian mutation database which would
facilitate genetic counseling.

Key words: Hemophilia B, factor IX gene, mutation, inhibitors.