IthaID: 1108

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 92 CAC>CCC; CD 104 AGG>AGC HGVS Name: HBB:c.[278A>C;315G>C]
Hb Name: Hb Duino Protein Info: β 92(F8) His>Pro AND β 104(G6) Arg>Ser

Also known as:

Comments: Hb Duino [β92(F8)His>Pro;β104(G6)Arg>Ser] is a combination of Hb Newcastle [IthaID: 1106] and Hb Camperdown [IthaID: 1162] in the same β-globin chain. It was initially identified in an Italian patient suffering from hemolytic anemia and characterized by protein analysis. Family study demonstrated that the Hb Newcastle abnormality arose from a de novo mutation occurring on a β gene already carrying the abnormality of Hb Camperdown.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71002 or 71039
Size: 1 bp or 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Italian
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Wajcman H, Blouquit Y, Vasseur C, Le Querrec A, Laniece M, Melevendi C, Rasore A, Galacteros F, Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain., Human genetics, 89(6), 676-80, 1992
Created on 2010-06-16 16:13:16, Last reviewed on 2023-04-28 13:45:46 (Show full history)

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