IthaID: 596

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 68 AAC>AAA [Asn>Lys] HGVS Name: HBA2:c.207C>A
Hb Name: Hb G-Philadelphia Protein Info: α2 68(E17) Asn>Lys

Context nucleotide sequence:

Protein sequence:

Also known as: Hb D-Baltimore, Hb D-St. Louis, Hb D-Washington, Hb G-Azakouli, Hb G-Bristol, Hb G-Knoxville, Hb Stanleyville-I

Comments: Reported as a cod68 AAC>AAG change on a chromosome with a normal complement of two α globin genes (αGα/αα) and as a cod68 AAC>AAG change on a chromosome that carries the -α3.7 thalassaemia deletion (-αG/αα) [IthaID: 3973]. Increases in the levels of Hb G-Philadelphia are the result of a deletion of one or more α-globin gene(s): ~25% with four α genes (αGα/αα), ~35% with three α genes (-αG/αα), ~45% with two α genes (-αG/-α), and 100% with one α gene (-αG/--). Different α genotypes present with variable extends of microcytosis and hypochromia, and a decreased ratio of α/β chain synthesis.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34099
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African, Chinese, Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes


Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
351Hb G-Philadelphiaα2D-10Dual Kit Program22.53.96Heterozygous. Associated with alpha thal.[PDF]
254Hb G-Philadelphiaα2D-10Dual Kit Program303.92Heterozygous. Associated with alpha thal. [PDF]
352Hb G-Philadelphiaα2VARIANTβ-thal Short Program21.74.04Heterozygous. Associated with alpha thal. [PDF]
255Hb G-Philadelphiaα2VARIANTβ-thal Short Program26.74.01Heterozygous. Eluates as HbD. Associated with alpha thal. [PDF]
354Hb G-Philadelphiaα2VARIANT IIDual Kit Program233.37Heterozygous. Elutes as HbS. Associated with alpha thal. [PDF]
353Hb G-Philadelphiaα2VARIANT IIβ-thal Short Program21.54.13Heterozygous. Elutes as HbD. Associated with alpha thal. [PDF]
257Hb G-Philadelphiaα2VARIANT IIDual Kit Program28.93.35Heterozygous. Eluates as HbS. Associated with alpha thal. [PDF]
256Hb G-Philadelphiaα2VARIANT IIβ-thal Short Program294.12Heterozygous. Eluates as HbD. Associated with alpha thal. [PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Bowman BH, Barnett DR, Hodgkinson KT, Schneider RG, Chemical characterization of haemoglobin G-St-I., Nature , 211(5055), 1305-6, 1966 PubMed
  2. Blackwell RQ, Wang CL, Liu CS, Shih TB, Haemoglobin G Philadelphia, alpha68(alphaE17) Asn leads to Lys, in a Chinese subject in Taiwan., Vox Sang. , 25(2), 184-6, 1973 PubMed
  3. Milner PF, Huisman TH, Studies of the proporation and synthesis of haemoblogin C Philadelphia in red cells of heterozygotes, a homozygote, and a heterozygote for both haemoglobin G and alpha thalassaemia., Br. J. Haematol. , 34(2), 207-20, 1976 PubMed
  4. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
  5. Molchanova TP, Pobedimskaya DD, Ye Z, Huisman TH, Two different mutations in codon 68 are observed in Hb G-Philadelphia heterozygotes., Am. J. Hematol. , 45(4), 345-6, 1994 PubMed
  6. Khalil MS, Timbs A, Henderson S, Schuh A, Hussein MR, Old J, Haemoglobin (Hb) G-Philadelphia, Hb Stanleyville-II, Hb G-Norfolk, Hb Matsue-Oki and Hb Mizushi can form a panel of α-chain variants that overlap in their phenotype: the novel use of StyI to screen for Hb G-Philadelphia., Int J Lab Hematol, 33(3), 318-25, 2011 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2024-03-06 11:02:41 (Show full history)

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