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The greek a γβ + ‐hpfh observed in a large black family
Author(s) -
Huang H. J.,
Stoming T. A.,
Harris H. F.,
Kutlar F.,
Huisman T. H. J.
Publication year - 1987
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830250406
Subject(s) - loss of heterozygosity , globin , haplotype , genetics , oligonucleotide , microbiology and biotechnology , glycine , heterozygote advantage , biology , gene , genotype , amino acid , allele
Several members of a Black family with a heterozygosity for an A γGβ + ‐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 A 2 , an average Hb F AD 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 A γ value of 84.5 %. Hybridization with synthetic oligonucleotides, specific for normal and mutant sequences at positions 111–129 5′ to the A γ globin gene, identified a G ± A base substitution at position 117, similar to that seen in subjects with the Greek A γ‐HPFH. Our data support conclusions by others [15,16,30] that this replacement is causative of the increased A γ chain synthesis in this condition. Haplotype analysis supported the suggestion that the G ± A substitution occurred as an independent event in this Black family.