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
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 Unclear |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- 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