IthaID: 467

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 16 AAG>GAG [Lys>Glu] HGVS Name: HBA2:c.49A>G
Hb Name: HbI Protein Info: α2 16(A14) Lys>Glu

Context nucleotide sequence:

Protein sequence:

Also known as: Hb I-Burlington, Hb I-Philadelphia, Hb I-Skamania, Hb I-Texas

Comments: Hb I interferes with HbA1c measurement.


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: 33824
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

Publications / Origin

  1. Beale D, Lehmann H, Abnormal haemoglobins and the genetic code., Nature , 207(994), 259-61, 1965
  2. Esan GJ, Morgan FJ, O'Donnell JV, Ford S, Bank A, Diminished synthesis of an alpha chain mutant, hemoglobin I (alpha-16 lys leads to glu)., J. Clin. Invest. , 49(12), 2218-21, 1970
  3. Fleming PJ, Arnold BJ, Thompson EO, Hughes WG, Morgan L, Hb I alpha16 Lys leads to Glu and Hb Broussais alpha90 Lys leads to Asn in Australian families., Pathology , 10(4), 317-27, 1978
  4. Saito S, Fujita S, Ohta Y, Kobayashi Y, Hemoglobin I (alpha 16(A14) Lys replaced by Glu) and hemoglobin J Iran (beta 77(EF1) His replaced by Asp) discovered in Japanese., Hemoglobin , 6(5), 537-41, 1982
  5. Liebhaber SA, Rappaport EF, Cash FE, Ballas SK, Schwartz E, Surrey S, Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome., Science , 226(4681), 1449-51, 1984
  6. 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
  7. Xu A, Sun J, Li J, Chen W, Zheng R, Han Z, Ji L, Hb I: A α-globin chain variant causing unexpected HbA results., J. Clin. Lab. Anal., 33(2), e22671, 2019
Created on 2010-06-16 16:13:15, Last reviewed on 2019-05-09 13:44:53 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.