G gamma beta + type of hereditary persistence of fetal haemoglobin in association with Hb C.
This report describes a Negro family with the G gamma beta + type of hereditary persistence of fetal haemoglobin. Family members with levels of haemoglobin F of 17 to 23% had normal red cell indices, balanced globin chain synthesis, and a pancellular distribution of the fetal haemoglobin, showing that these subjects have a form of HPFH. The production of Hb A and C in addition to the large amount of Hb F in one family member showed that there was an active beta A gene in cis to the HPFH determinant, while structural analysis of the Hb F revealed the presence of only G gamma chains. The criteria for the diagnosis of G gamma beta + HPFH, and the relevance of such conditions to the control of globin gene expression, are discussed.
D000328:Adult; D044383:Black People; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis / Q000235:genetics*; D005914:Globins / Q000096:biosynthesis; D006441:Hemoglobin A / Q000032:analysis; D006444:Hemoglobin C / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D010375:Pedigree
D005914:Globins; D006444:Hemoglobin C; D006441:Hemoglobin A; D005319:Fetal Hemoglobin