IthaID: 3663


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: HS-40 deletion HGVS Name: NC_000016.10:g.(47217_113592)_(113687_143639)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The novel α-thal deletion found in combination with the rightward –α3.7 deletion causing Hb H disease in a 44-year-old man. Patient presented with moderate microcytic hypochromic anemia and electrophoresis analysis showed slightly low Hb A2, with a typical Hb H band (5.3%). The deletion removed the major regulatory element of the α-globin locus, HS-40. The 5’ breakpoint is localised between the positions 47217 and 113592 while the 3’ breakpoint is localized between 113687 and 143639 (coordinates: GRCh38.p13, NC_000016.10). As the breakpoints are not clearly defined the deletion size is just an approximation.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 96.422 kb
Deletion involves: HS40

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

Publications / Origin

  1. Luo S, Chen X, Zhong Q, Wang Q, Xu Z, Qin L, Wang J, Yuan D, Yan T, Tang N, Analysis of rare thalassemia caused by HS-40 regulatory site deletion., Hematology, 25(1), 286-291, 2020
Created on 2020-10-15 13:21:07, Last reviewed on 2021-11-30 15:57:42 (Show full history)

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