IthaID: 613


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 75 GAC>CAC [Asp>His] HGVS Name: HBA2:c.226G>C
Hb Name: Hb Q-Iran Protein Info: α2 75(EF4) Asp>His

Context nucleotide sequence:
GACCAACGCCGTGGCGCACGTGGAC [G/C] ACATGCCCAACGCGCTGTCCGCCCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDHMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34118
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: Iranian, Turkish, Pakistani
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

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
359Hb Q-Iranα2VARIANT IIβ-thal Short Program21.24.85heterozygote[PDF]
360Hb Q-Iranα2VARIANT IIDual Kit Program19.24.09heterozygote[PDF]

Publications / Origin

  1. Lorkin PA, Charlesworth D, Lehmann H, Rahbar S, Tuchinda S, Eng LI, Two haemoglobins Q, alpha-74 (EF3) and alpha-75 (EF4) aspartic acid to histidine., Br. J. Haematol. , 19(1), 117-25, 1970
  2. Lie-Injo LE, Dozy AM, Kan YW, Lopes M, Todd D, The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia., Blood , 54(6), 1407-16, 1979
  3. Aksoy M, Gurgey A, Altay C, Kilinc Y, Carstairs KC, Kutlar A, Chen SS, Webber BB, Wilson JB, Huisman TH, Some notes about Hb Q-India and Hb Q-Iran., Hemoglobin , 10(2), 215-9, 1986
  4. Khorshidi M, Roshan P, Bayat N, Mahdavi MR, Najmabadi H, Hemoglobin Q-Iran detected in family members from Northern Iran: a case report., J Med Case Rep, 6(0), 47, 2012
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 11:49:53 (Show full history)

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