Abstract
Several members of a Black family with a heterozygosity for an AγGβ+‐HPFH, shown in 1969 to have relatively low levels of Hb F and a low glycine to alanine ratio in the γ chain of this Hb F, were reinvestigated. Thirteen of 30 available family members in two generations had the heterozygous form of this condition, which was characterized by a decreased level of Hb A2, an average Hb FAD value of 13.3%, an equal distribution of Hb F over the red cells, and normal hematological values. The γ chain composition of isolated Hb F was determined by reversed phase high performance liquid chromatography for all 13 heterozygotes and showed an average Aγ value of 84.5 %. Hybridization with synthetic oligonucleotides, specific for normal and mutant sequences at positions 111–129 5′ to the Aγ globin gene, identified a G ± A base substitution at position 117, similar to that seen in subjects with the Greek Aγ‐HPFH. Our data support conclusions by others [15,16,30] that this replacement is causative of the increased Aγ chain synthesis in this condition. Haplotype analysis supported the suggestion that the G ± A substitution occurred as an independent event in this Black family.
Original language | English (US) |
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Pages (from-to) | 401-408 |
Number of pages | 8 |
Journal | American Journal of Hematology |
Volume | 25 |
Issue number | 4 |
DOIs | |
State | Published - Aug 1987 |
Keywords
- Greek γβ‐HPFH
- haplotypes
- synthetic oligonucleotides
- γ to γ ratio
- γ‐HPFH
ASJC Scopus subject areas
- Hematology