IthaID: 828



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 7 (-GAG) [-Glu] HGVS Name: HBB:c.22_24delGAG
Hb Name: Hb Leiden Protein Info: β7 (A4) Glu->0

Context nucleotide sequence:
CATGGTGCATCTGACTCCTGAG [GAG/-] AAGTCTGCCGTTACTGCCCTGT (Strand: -)

Also known as: Hb Xinyi

Comments: In a recent unpublish report, it was found in a 6-month-old male in compound heterozygosity with Hb Dahua [IthaID: 3747] and Hb Q-Thailand [IthaID: 607] with no clinical presentation. He presented with Hb 11.9 g/dL, RBC 4.74×10^12/L, MCV 80.0 fL, and MCH 25.0 pg. Capillary electrophoresis shown HbA 65.9 %, Hb Xinyi 7.6 %, Hb F + Hb Q-Thailand 22.2 %, HbA2 1.3 %, Hb Q-Thailand-HbA2 1.1% and Hb Xinyi-Q-Thailand 1.9%.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70616
Size: 3 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: American, Chinese, Mexican, Netherlands, South African, Yugoslavian, Dutch
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. De Jong WW, Went LN, Bernini LF, Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid., Nature, 220(5169), 788-90, 1968 PubMed
  2. Jongbloed W, van Twillert G, Schoorl M, Schindhelm RK, Unstable haemoglobin variant Hb Leiden is detected on Sysmex XN-Series analysers., Clin Chem Lab Med, 56(9), e249-e250, 2018 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-08-26 12:18:54 (Show full history)

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