IthaID: 873


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 22 GAA>CAA HGVS Name: HBB:c.67G>C
Hb Name: Hb D-Iran Protein Info: β 22(B4) Glu>Gln

Context nucleotide sequence:
CCTGTGGGGCAAGGTGAACGTGGAT [A/C/G/T] AAGTTGGTGGTGAGGCCCTGGGCAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDQVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70661
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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: N/A
Ethnic Origin: Iranian | Italian | Jamaican | Pakistani
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
174Hb D-IranβD-10Dual Kit Program452.64Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. Compound heterozygotes HbS/Hb D-Iran behave clinically as HbA/HbS.[PDF]
269Hb D-IranβD-10Dual Kit Program14.32.59heterozygote[PDF]
177Hb D-IranβVARIANT IIDual Kit Program40.32.823Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. Compound heterozygotes HbS/Hb D-Iran behave clinically as HbA/HbS.[PDF]
272Hb D-IranβVARIANT IIDual Kit Program392.71Heterozygous. Elutes as HbA2 in CE-HPLC. [PDF]
175Hb D-IranβVARIANTβ-thal Short Program40.33.55Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. Compound heterozygotes HbS/Hb D-Iran behave clinically as HbA/HbS.[PDF]
270Hb D-IranβVARIANTβ-thal Short Program383.56Heterozygous. Elutes as HbA2 in CE-HPLC.[PDF]
176Hb D-IranβVARIANT IIβ-thal Short Program40.43.56Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. Compound heterozygotes HbS/Hb D-Iran behave clinically as HbA/HbS.[PDF]
271Hb D-IranβVARIANT IIβ-thal Short Program38.73.54Heterozygous. Elutes as HbA2 in CE-HPLC. [PDF]

Publications / Origin

  1. Rahbar S, Haemoglobin D Iran: 2 22 glutamic acid leads to glutamine (B4)., British journal of haematology, 24(1), 31-5, 1973
  2. Gupta A, Saraf A, Dass J, Mehta M, Radhakrishnan N, Saxena R, Bhargava M, Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy., Indian J Hematol Blood Transfus , 30(0), 409-12, 2014
Created on 2010-06-16 16:13:16, Last reviewed on 2016-09-08 17:38:50 (Show full history)

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