IthaID: 3602

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -44 G>A HGVS Name: HBD:c.-94G>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Initially reported in an α+ thalassaemia carrier (-α4.2/αα) with a low level of HbA2 (1.12%) during an epidemiological survey in a student cohort, Guangxi Zhuang Autonomous Region. Reported as a compound heterozygote with δ -77 T>C with a slightly decreased hematological parameters (Hb 115 g/L, MCV 79.2 fL, MCH 25.3 pg, RDW 15.3%, HbA2 0.8%, and SF 15.40 ng/mL), which might be due to the lower level of SF.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63089
Size: 1 bp
Located at: δ
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Xiong F, Sun M, Zhang X, Cai R, Zhou Y, Lou J, Zeng L, Sun Q, Xiao Q, Shang X, Wei X, Zhang T, Chen P, Xu X, Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China., Clin. Genet., 78(2), 139-48, 2010 PubMed
  2. Chen M, Huang H, Chen L, Lin N, Zhang M, Lin Y, Xu L, First report of the spectrum of δ-globin gene mutations among women of reproductive age in Fujian area-Discrimination of δ-thalassemia, α-thalassemia, and Iron Deficiency Anemia., J Clin Lab Anal, 34(11), e23479, 2020 PubMed
Created on 2020-07-01 13:49:27, Last reviewed on 2021-08-17 14:11:27 (Show full history)

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