IthaID: 221


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS II-848 (C>A) HGVS Name: HBB:c.316-3C>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GTTCATACCTCTTATCTTCCTCCCA [A/C/G] AGCTCCTGGGCAACGTGCTGGTCTG (Strand: -)

Also known as:

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β+
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71887
Size: 1 bp
Located at: β
Specific Location: Intron 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Consensus splice site (mRNA Processing)
Ethnic Origin: African-American, Egyptian, Iranian, Syrian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Frequencies

Publications / Origin

  1. Gonzalez-Redondo JM, Stoming TA, Lanclos KD, Gu YC, Kutlar A, Kutlar F, Nakatsuji T, Deng B, Han IS, McKie VC, Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States., Blood, 72(3), 1007-14, 1988
  2. Wong C, Antonarakis SE, Goff SC, Orkin SH, Forget BG, Nathan DG, Giardina PJ, Kazazian HH, Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene., Blood, 73(4), 914-8, 1989
  3. Shoujaa A, Mukhalalaty Y, Murad H, Al-Quobaili F, Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (: c.316-3C>A) in association with IVS-I-1 (G>A) (: c.92 + 1G>A), observed in a Syrian family: a case report., Hemoglobin, 43(0), 283-285, 2019
Created on 2010-06-16 16:13:15, Last reviewed on 2020-01-31 09:36:12 (Show full history)

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