IthaID: 596



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 68 AAC>AAG or AAA [Asn>Lys] HGVS Name: HBA1:c.207C>A | HBA1:c.207C>G | HBA2:c.207C>A | HBA2:c.207C>G
Hb Name: Hb G-Philadelphia Protein Info: α2 or α1 68(E17) Asn>Lys

Context nucleotide sequence:
AGAAGGTGGCCGACGCGCTGACCAA [A/C/G] GCCGTGGCGCACGTGGACGACATGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTKAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: From HbVar: 1) Hb G-Philadelphia in Blacks is present on a chromosome with the 3.7 kb deletion (alpha-thal-2); the quantity of Hb G in such individuals varies between 30-35%. 2) When an alpha-thal-2 (3.7 kb deletion) occurs in trans (-alphaG/-alpha) the quantity of Hb G is increased to ~45%; these individuals have a distinct microcytosis and hypochromia (alpha-thal-2 homozygotes). 3) Homozygosity for Hb G-Philadelphia (-alphaG/-alphaG) results in 100% G-Philadelphia; these individ-uals also have a distinct microcytosis; hypochromia (alpha-thal-2 homozygotes). 4) Hb G-Philadelphia in combination with an alpha-thal-1, although extremely rare, results in an Hb H disease (-alphaG/--) and 100% G-Philadelphia. 5) The occurrence of Hb G-Philadelphia (-alphaG/alphaalpha) with Hb S and/or Hb C is rather common. 6) Italians with Hb G-Philadelphia have a full complement of four alpha-globin genes (alphaGalpha/alphaalpha) and 20-25% G-Philadelphia; no hematological abnormalities are found.

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34099 or 37903
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African, Chinese, Italian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

HPLC

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
254Hb G-Philadelphiaα1 or α2D-10Dual Kit Program303.92Heterozygous. Associated with alpha thal. [PDF]
351Hb G-Philadelphiaα1 or α2D-10Dual Kit Program22.53.96Heterozygous. Associated with alpha thal.[PDF]
257Hb G-Philadelphiaα1 or α2VARIANT IIDual Kit Program28.93.35Heterozygous. Eluates as HbS. Associated with alpha thal. [PDF]
354Hb G-Philadelphiaα1 or α2VARIANT IIDual Kit Program233.37Heterozygous. Elutes as HbS. Associated with alpha thal. [PDF]
255Hb G-Philadelphiaα1 or α2VARIANTβ-thal Short Program26.74.01Heterozygous. Eluates as HbD. Associated with alpha thal. [PDF]
352Hb G-Philadelphiaα1 or α2VARIANTβ-thal Short Program21.74.04Heterozygous. Associated with alpha thal. [PDF]
256Hb G-Philadelphiaα1 or α2VARIANT IIβ-thal Short Program294.12Heterozygous. Eluates as HbD. Associated with alpha thal. [PDF]
353Hb G-Philadelphiaα1 or α2VARIANT IIβ-thal Short Program21.54.13Heterozygous. Elutes as HbD. Associated with alpha thal. [PDF]

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
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-10 08:42:10 (Show full history)

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