IthaID: 1068

Context nucleotide sequence:
GTGATGGCCTGGCTCACCTGGACAA [C>G] CTCAAGGGCACCTTTGCCACACTGA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDKLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Gifu

Comments: Initially reported by protein analysis as an asparagine [AAC] to lysine [AAA or AAG] change at position β80, which is in the nonhelical EF section of the β-chain, in families of different origins. Later reported as a c.243C>G change by DNA analysis. Asp (neutral) to Lys (positive charge) substitution changes the charge of the Hb molecule. The electrophoretic mobility is similar to the other variant Hb of the D and G group. It can result in falsely low HbA1c concentration readings when using HPLC. It does not disturb the oxygenation/deoxygenation function, nor the stability of the Hb molecule. Its presence does not appear to cause any clinical or hematological abnormality; the Hb GSzuhu/β0-thalassemia condition apparently is more or less comparable to a simple β0-thalassemia. The same Hb variant is also described as Hb G Gifu in Japan.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Heterozygous records (preview in IthaPhen)

1. Blackwell RQ, Yang HJ, Wang CC, Hemoglobin G Szuhu: beta80 Asn replaced by Lys., Biochimica et biophysica acta, 188(1), 59-64, 1969 PubMed
2. Matsutomo K, Miyaji T, Iuchi I, Ueda S, Shibata S, Hb Gifu (beta 80 Asn-Lys), a new slow moving hemoglobin detected from two families of Japanese., Nippon Ketsueki Gakkai Zasshi , 34(4), 479-83, 1971 PubMed
3. Kaufman S, Leiba H, Clejan L, Wallis K, Lorkin PA, Lehmann H, Haemoglobin G-Szuhu, beta80 Asn-Lys, in the homozygous state in a patient with abetalipoproteinaemia., Hum. Hered. , 25(1), 60-8, 1975 PubMed
4. Welch SG, Haemoglobin G Szuhu beta 80 asn leads to lys in an English family., Humangenetik, 28(4), 331-3, 1975 PubMed
5. Romero C, Fernandez Fuertes I, Quintana A, Blanco L, Navarro JL, Wilson JB, Huisman TH, Hb G-Szuhu or alpha 2 beta 2(80)(EF4)Asn----Lys, in combination with beta zero-thalassemia in a Spanish family., Hemoglobin, 9(5), 535-9, 1985 PubMed
6. Schillirò G, Russo-Mancuso G, Dibenedetto SP, Samperi P, di Cataldo A, Ragusa R, Testa R, Six rare hemoglobin variants found in Sicily., Hemoglobin, 15(5), 431-7, 1991 PubMed
7. Moriwaki Y, Yamamoto T, Shibutani Y, Harano T, Takahashi S, Hada T, Abnormal haemoglobins, Hb Takamatsu and Hb G-Szuhu, detected during the analysis of glycated haemoglobin (HbA1C) by high performance liquid chromatography., J Clin Pathol, 53(11), 854-7, 2000 PubMed
8. Perera PS, Silva I, Hapugoda M, Wickramarathne MN, Wijesiriwardena I, Efremov DG, Fisher CA, Weatherall DJ, Premawardhena A, Rare hemoglobin variants: Hb G-Szuhu (HBB: c.243C>G), Hb G-Coushatta (HBB: c.68A>C) and Hb Mizuho (HBB: c.206T>C) in Sri Lankan families., Hemoglobin , 39(1), 62-5, 2015 PubMed