Hematological Observations on Arabian SS Patients with a Homozygosity or Heterozygosity for a β^S Chromosome with Haplotype #31

Abstract

Hematological and hemoglobin composition data are presented for seven Arabian SS patients with mild disease and with high Hb F levels varying between 21 and 34%. Four patients were homozygous for a β^S chromosome with a specific haplotype (#31). The data for these four patients were similar to those for three other SS patients (and for five patients reported earlier, Ref. 2) who were heterozygous for the same β^S chromosome (#31) and for a β^S chromosome with another haplotype (mainly #19). These data offer additional evidence indicating that the increased γ chain production is specific for the β^S chromosome with haplotype #31. The similarities in hematological data and Hb F levels between these two groups of SS patients and the normal Hb F value in Hb S heterozygotes with β^S chromosome (#31) support the suggestion that the increased Hb F production mainly occurs in response to the anemia of the sickle cell disease.