[Hereditary persistence of fetal Hb and its association with Hb S. 1st case found in Costa Rica].
An electrophoretic pattern of Hb S + Hb F, the relative concentration of this last being 37%, was found in a phenotypically mestizo 3 year-old child of Costa Rica. The genotype of the child was G gamma/A gamma, with a ratio of 1:1. Both hereditary alterations were disperse, according to the family study performed, which showed Hb S plus hereditary persistence of foetal haemoglobin of the African type G gamma A gamma (delta beta o). This case is briefly discussed, along with the molecular heterogeneity of HPFH and the importance of the differential diagnosis of electrophoretic patterns found in Hb S + Hb F patients.
Sáenz
G F
GF
Chaves
M
M
Peña
I
I
Rodríguez
W
W
Montero
A G
AG
Jiménez
J
J
D000755:Anemia, Sickle Cell / Q000150:complications* / Q000175:diagnosis; D001797:Blood Protein Electrophoresis; D002675:Child, Preschool; D003364:Costa Rica / Q000453:epidemiology; D003937:Diagnosis, Differential; D005319:Fetal Hemoglobin / Q000032:analysis*; D006451:Hemoglobin, Sickle / Q000032:analysis*; D006453:Hemoglobinopathies / Q000150:complications* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D012805:Sickle Cell Trait / Q000150:complications* / Q000235:genetics
D006451:Hemoglobin, Sickle; D005319:Fetal Hemoglobin
Persistencia hereditaria de Hb fetal y su asociación con Hb S. Primer caso hallado en Costa Rica.