A new type of hereditary persistence of fetal haemoglobin (HPFH): HPFH Tunisia beta + (+C-200)G gamma.
Nd-HPFH are haematological conditions which are natural models to aid understanding of the haemoglobin (Hb) switch. In this paper we describe a new non-deletional hereditary persistence of fetal haemoglobin (nd-HPFH) associated with the highest Hb F level observed to date (up to 49% without haemopoietic stress). Sequence of the G gamma promoter revealed a cytidine insertion within a stretch of four cytidines, located between -200 and -203 bp with respect to the cap site. This insertion is situated within a polypyrimidine-polypurine region which can adopt a triple helix structure, and is therefore of particular interest with respect to the Hb switch mechanism.
Pissard
S
S
INSERM U.91, Hôpital Henri Mondor, Créteil, France.
M'rad
A
A
Beuzard
Y
Y
Roméo
P H
PH
D003241:Consanguinity; D004251:DNA Transposable Elements; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011401:Promoter Regions, Genetic; D017422:Sequence Analysis, DNA
D004251:DNA Transposable Elements; D005319:Fetal Hemoglobin