[Hereditary persistence of fetal Hb and its association with Hb S. 1st case found in Costa Rica]. 1989

G F Sáenz, and M Chaves, and I Peña, and W Rodríguez, and A G Montero, and J Jiménez

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.

UI MeSH Term Description Entries
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D001797 Blood Protein Electrophoresis Electrophoresis applied to BLOOD PROTEINS. Hemoglobin Electrophoresis,Electrophoresis, Blood Protein,Electrophoresis, Hemoglobin,Protein Electrophoresis, Blood
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003364 Costa Rica A country in CENTRAL AMERICA, bordering both the Caribbean Sea and the North Pacific Ocean, between NICARAGUA and PANAMA.
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005319 Fetal Hemoglobin The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA. Hemoglobin F,Hemoglobin, Fetal
D006451 Hemoglobin, Sickle An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia. Hemoglobin S,Deoxygenated Sickle Hemoglobin,Deoxyhemoglobin S,Hemoglobin SS,Hemoglobin, Deoxygenated Sickle,SS, Hemoglobin,Sickle Hemoglobin,Sickle Hemoglobin, Deoxygenated
D006453 Hemoglobinopathies A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. Hemoglobinopathy
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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