IthaID: 3595

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --CR HGVS Name: NC_000016.10:g.144215_188843del
Hb Name: Hb Chiang Rai Protein Info: N/A

Also known as:

Comments: The 44.6 kb deletion was reported in a Thai pregnant female presented with microcytic hypochromic red blood cells (MCV<80fL and MCH<27pg). The 5’ breakpoint of the novel α0-thal deletion is localized at position 144215 in an intergenic region between NPRL3 (c16orf35) and HBZ genes, whereas the 3’ breakpoint is localized at apposition 188843 in an upstream region of LUC7L gene (coordinates: GRCh38.p13, NC_000016.10). The NGS analysis of the fetal genomic DNA revealed a compound heterozygous of α0-thal –SEA and of α0-thal --CR type deletions leading to an atypical form of Hb Bart's hydrops fetalis. The HPLC chromatogram of the mother presented the normal pattern of HbA2A while those of the fetal cord blood sample showed 94% Hb Bart's and 6% HbH.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 5078
Size: 44.628 kb
Deletion involves: ζ, α2, α1, HBM

Other details

Type of Mutation: Deletion
Ethnic Origin: Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ruengdit C, Panyasai S, Kunyanone N, Phornsiricharoenphant W, Ngamphiw C, Tongsima S, Sripichai O, Pissard S, Pornprasert S, Characterization and identification of Hb Bart's hydrops fetalis caused by a compound heterozygous mutation -- /-- , a novel α -thalassemia deletion., Int J Lab Hematol, 42(3), e116-e120, 2020 PubMed
Created on 2020-06-19 12:36:47, Last reviewed on (Show full history)

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