IthaID: 1166



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 106 CTG>CCG [Leu>Pro] HGVS Name: HBB:c.320T>C
Hb Name: Hb Southampton Protein Info: β 106(G8) Leu>Pro

Context nucleotide sequence:
CCTCTTATCTTCCTCCCACAGCTCC [A/C/G/T] GGGCAACGTGCTGGTCTGTGTGCTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLPGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Casper

Comments: Rare haemoglobin (Hb) variant reported as a de novo mutation in a handful of patients from various ethnic backgrounds. The β106 Leu>Pro substitution disrupts the alpha helix of the β-chain and alters the tertiary structure of the Hb molecule at a point where there is direct contact with heme, resulting in the loss of the heme group. The variant can be detected by isoelectric focusing (IEF) but it is electrophoretically silent in conventional Hb electrophoresis. Detection of inclusion bodies and highly unstable Hb.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71894
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Argentinean | Caucasian | English | Uruguayan | Chinese | Hispanic
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Hyde RD, Hall MD, Wiltshire BG, Lehmann H, Haemoglobin Southampton, 106 (G8) Leu leads to pro: an unstable variant producing severe haemolysis., Lancet, 2(7788), 1170-2, 1972 PubMed
  2. Koler RD, Jones RT, Bigley RH, Litt M, Lovrien E, Brooks R, Lahey ME, Fowler R, Hemoglobin Casper: beta 106 (G8) Leu leads to Pro; a contemporary mutation., The American journal of medicine, 55(3), 549-58, 1973 PubMed
  3. Wajcman H, Gacon G, Labie D, Koler RD, Jones RT, Isolation and functional characterization of hemoglobin Casper: beta106(G8) Leu replaced by Pro., Biochemistry, 14(22), 5017-20, 1975 PubMed
  4. Didkovskiĭ NA, Idel'son LI, Filippova AV, Lemann G, [A new case of the unstable hemoglobin Southampton--Casper(beta106) (G68) leucine--proline)]., Probl Gematol Pereliv Krovi, 21(6), 48-50, 1976 PubMed
  5. Heintz NH, Howard PL, Hemoglobin Southampton (Casper): characterization of the base mutation., Am. J. Hematol., 30(1), 1-3, 1989 PubMed
  6. Eandi Eberle S, Noguera NI, Sciuccati G, Bonduel M, Díaz L, Staciuk R, Feliu-Torres A, Hb Southampton [beta106(G8)Leu-->Pro, CTG-->CCG] in an Argentinean boy., Hemoglobin, 30(3), 401-3, 2006 PubMed
  7. Avalos Gómez V, Eandi Eberle S, Pepe C, Sciuccati G, García Rosolen N, Cervio C, Díaz L, Candás A, Bonduel M, Piazza G, Chaves D, Feliú Torres A, [Severe hemolytic anemia due to hemoglobin Southampton: case report]., Arch Argent Pediatr, 110(5), e91-4, 2012 PubMed
  8. Pereira JA, López P, Costa FF, Sans M, Sonati Mde F, Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman., Rev Bras Hematol Hemoter, 35(2), 146-7, 2013 PubMed
  9. Haque A, Quint DJ, Castle VP, Leber SM, Another Rare Unstable Hemoglobinopathy: Hemoglobin Casper/Southampton Associated with Moyamoya Disease., Cerebrovasc Dis Extra, 5(2), 52-4, 2015 PubMed
  10. Liu J, Huang Y, Lei Y, Lai Y, Hb Southampton [β106(G8)Leu→Pro; HBB: c.320T>C] and Codons 41/42 (-TTCT; HBB: c.124_127delTTCT) in a Chinese Girl., Hemoglobin, 41(2), 134-136, 2017 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2019-05-16 12:34:19 (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.

Please publish modules in offcanvas position.