IthaID: 2568


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: FD duplication HGVS Name: NC_000016.10:g.55826_(185840_187594)dup

Also known as:

Comments: A complete duplication of the α-globin gene cluster on the other allele spanning a 175 kb region from the telomere to the 3′HVR downstream of the α-globin genes. This duplication defect in addition to a anti-3.7 triplication, brings the expression of the α-globin genes from the normal 4 to a total of 7, explaining the severe-intermediate status of this patient.

External Links

No available links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 175 kb
Located at: HS40, ζ, α2, α1

Other details

Type of Mutation: Duplication
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Harteveld CL, Refaldi C, Cassinerio E, Cappellini MD, Giordano PC, Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients., Blood Cells Mol. Dis. , 40(3), 312-6, 2008
Created on 2015-12-07 11:19:17, Last reviewed on 2021-12-01 08:36:22 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.