Abstract:
We have investigated the genetic basis for the Hp0 phenotype amongst
123 randomly selected Ghanaians. A total of 17 individuals were
determined to be Hp0 phenotype, based on the classical method for Hp
phenotyping of Hb-supplemented plasma. Out of the 17 Hp0 individuals,
nine subjects were further classified as ahaptoglobinaemic and eight as
hypohaptoglobinaemic byWestern blots and double immunodiffusion.We
identified three previously known base substitutions (A 55G,A 61C and
T 104A) and three new ones (C 101G, T 191G and C 242T)within the
50 flanking region of the Hp gene. The A 61C base substitution
significantly decreased transcriptional activity and was associated strongly
with Hp2 allele and ahaptoglobinaemia. The C 101G substitution was
similar in transcriptional activity to the wild-type and was associated with
Hp1S allele and hypohaptoglobinaemia. The Hpdel allele seen in Asian
populations was absent.We conclude that the Hp0 phenotype in Ghana
has a genetic basis that differs significantly from that seen in Asia.
