Prevalence of a CCR5 gene 32-bp deletion in an Israeli cohort of HIV-1-infected and uninfected hemophilia patients.

Objective: The recently discovered connection of chemokines and their receptors to HIV pathogenesis, and the description of the 32-bp deletion in the CCR5 gene (delta 32 CCR5), led to heightened excitement and numerous reports regarding their role in HIV transmission and disease progression. The populations in most of these reports, except for one, consisted of homosexual men. Our objective was to investigate the significance of delta 32 CCR5 in hemophilia patients in Israel.

Study design/methods: We have determined by polymerase chain reaction (PCR) the prevalence of delta 32 CCR5 in 34 HIV-seropositive Israeli patients with hemophilia A and compared them with a control group of 42 HIV-seronegative hemophilia patients.

Results: Thirteen heterozygotes were identified among the 76 hemophilia patients tested (allelic frequency, 8.5%), 5 (14.7%) among the HIV-seropositive patients, and 8 (19%) among the noninfected.

Conclusions: No protective advantage to delta 32 CCR5 heterozygosity was seen as far as infection with HIV is concerned. However, a trend of a slower progression to AIDS in delta 32 CCR5 heterozygotes compared with wild-type homozygotes may be apparent, although no absolute correlation could be made.