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This report describes a Negro family with the (G)γβ+ 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 and A and C in addition to the large amount of Hb F in one family member showed that there was an active β(A) gene in cis to the HPFH determinant, while structural analysis of the Hb F revealed the presence of only (G)γ chains. The criteria for the diagnosis of (G)γβ+ HPFH, and the relevance of such conditions to the control of globin gene expression, are discussed.


Journal article


Journal of Medical Genetics

Publication Date





288 - 295