IthaID: 3596

Also known as: -Gγ-Gγ-, HBG2 duplication

Comments: The Gγ-Gγ-globin gene arrangement was first observed in Black families from Southeastern USA. Adults with this globin gene arrangement have low HbF levels (<1%) with heterocellular distribution in red cells and Gγ values only slightly higher than observed for persons with the -Gγ-Aγ- globin gene arrangement. Observed in Black and Sardinian newborns with increased Gγ/(Gγ+Aγ) chain ratios (>80%). The presence of the -158C>T substitution in the two Gγ-globin genes has been associated with elevated HbF in adults, a condition called Atlanta type of HPFH [IthaID: 3435]. HGVS name was created based on the affected probes of the MLPA analysis.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

No available links

Heterozygous records (preview in IthaPhen)

1. Powers PA, Altay C, Huisman TH, Smithies O, Two novel arrangements of the human fetal globin genes: G gamma-G gamma and A gamma-A gamma., Nucleic Acids Res., 12(18), 7023-34, 1984 PubMed
2. Huisman TH, Chen SS, Nakatsuji T, Kutlar F, A second family with the Atlanta type of HPFH., Hemoglobin, 9(4), 393-8, 1985 PubMed
3. Manca L, Masala B, Orzalesi M, Huang HJ, Huisman TH, Abnormal gamma-globin gene arrangements in Sardinians., Hemoglobin, 12(0), 741-53, 1988 PubMed
4. Kutlar A, Kutlar F, Gu LG, Mayson SM, Huisman TH, Fetal hemoglobin in normal adults and beta-thalassemia heterozygotes., Hum. Genet., 85(1), 106-10, 1990 PubMed
5. Efremov DG, Dimovski AJ, Huisman TH, The -158 (C-->T) promoter mutation is responsible for the increased transcription of the 3' gamma gene in the Atlanta type of hereditary persistence of fetal hemoglobin., Blood, 83(11), 3350-5, 1994 PubMed