title: A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2.
abstract: A 59-year-old man with beta-thalassaemia major is unusually well. He has no beta-chains in his haemoglobin but is heterozygous for the genes responsible for alphaA and for alphaG Philadelphia. In addition he is also heterozygous for the genes responsible for gammaF and a new gamma-chain, gamma75(E19) Ile-Thr, named gammaF Sardinia. It was not possible to isolate the mutant gamma-chain, but from the overall ratios of Ggamma-:Agamma-Chain and gamma75 Ile : gamma75 Thr, it could be inferred that the mutation had presumably occured in the Ggamma-chain. Some of the propositus' siblings have high levels of Hb A2, and it is suggested that they possibly carry a gene for Lepore chain with the deltabeta-crossover after residue delta126.
mesh_terms: D002854:Chromatography, Paper; D005319:Fetal Hemoglobin / Q000032:analysis*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009996:Osmotic Fragility; D010375:Pedigree; D013789:Thalassemia / Q000097:blood* / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D005319:Fetal Hemoglobin