Hb F-Forest Park, a new Aγ variant with two amino acid substitutions, 75(E19)Ile → Thr and 73(E17)Asp → Asn, which can be identified in adults by gene-mapping analysis

Add time:07/22/2019    Source:sciencedirect.com

The discovery is reported of a new fetal hemoglobin (Hb) variant which has an abnormal Aγ globin chain with two substitutions, namely 73(E17) Asp → Asn and 75(E19) Ile → Thr (the latter is also seen in the common AγT chain). This AγT variant was present in a female Caucasian newborn; its quantity at birth was 12.2% of the total Hb F (including F, F1 and F-Forest Park). Extensive gene-mapping analyses with a battery of restriction enzymes and probes identified normal globin gene arrangements in the baby and several relatives, but a -Gγ-Gγ- globin gene arrangement was present in the father, paternal grandmother and half-sister. The Hb F-Forest Park anomaly could be detected in the father, paternal grandfather, half-brother and the baby through digestion of their DNA's with SfaNI and hybridization with the γIVS-H probe, because the G → A base substitution at codon 73 leads to loss of a restriction site and to the occurrence of an abnormal fragment.

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