IthaID: 3231

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 7 (-3bp): (-GAG) HGVS Name: HBD:c.22_24delGAG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Found in one case after haematological and mutation spectrum analysis of δ-globin gene in Chinese Han prenatal population [PMID: 28592066]. One additional case reported in a 41-year-old Chinese male presented with normal haematological indices, Hb 16.3 g/dL, RBC 4.88×1012/L, MCV 97.3 fL, MCH 33.4 pg, MCHC 34.3 g/L. Capillary electrophoresis shown normal levels of HbA 98.4%, HbA2 1.3% and HbF 0.3%.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δ-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63204
Size: 3 bp
Located at: δ
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: Chinese Han
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Zhong LY, Xie YJ, Chen PS, Feng YW, Liu M, Huang B, He XH, Gan X, [Analysis of haematological phenotype and mutation spectrum of δ-globin gene from Guangdong area in Chinese Han prenatal population]., Zhonghua Yi Xue Za Zhi , 97(20), 1580-1583, 2017 PubMed


1Li, Youqiong2021-04-12Report of an update.
Created on 2017-07-11 15:48:01, Last reviewed on 2021-04-22 11:19:06 (Show full history)

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