[Hereditary persistence of fetal hemoglobin associated with mutation above the gamma gene].
Fetal hemoglobin is normally present but as an extremely minor constituent in red cells during adult life. Its persistence or reappearance in various conditions is encountered mainly in the course of major hemoglobinopathies, but can also exist in the absence of any pathological symptom, defining the group of the so called Hereditary Persistence of Fetal hemoglobin (HPFH). We report here a case of G gamma beta + HPFH due to a C----G mutation 202 bp 5' to the Cap Site of the G gamma gene, in a region of major importance for controlling the gamma gene expression.
Vidaud-Raphanaud
D
D
I'INSERM U 15, Institut de Pathologie Moléculaire, CHU Cochin, Paris.
Badoual
J
J
Labie
D
D
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005319:Fetal Hemoglobin / Q000032:analysis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D009154:Mutation; D012315:RNA Caps
D006455:Hemoglobins, Abnormal; D012315:RNA Caps; D005319:Fetal Hemoglobin
Persistance héréditaire de l'hémoglobine foetale associée à une mutation en amont d'un gène gamma.