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:

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 Q-Thailand [IthaID: 607] with no clinical presentation.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


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

In silico pathogenicity prediction

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


1Li, Youqiong2021-06-03Report of an update.
Created on 2010-06-16 16:13:16, Last reviewed on 2022-09-15 11:30:39 (Show full history)

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