IthaID: 810



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 6 GAG>AAG [Glu>Lys] HGVS Name: HBB:c.19G>A
Hb Name: HbC Protein Info: β 6(A3) Glu>Lys

Context nucleotide sequence:
AGACACCATGGTGCATCTGACTCCT [A/C/G] AGGAGAAGTCTGCCGTTACTGCCCT (Strand: -)

Protein sequence:
MVHLTPKEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70613
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
14HbCβD-10Dual Kit Program82.54.82Compound heterozygous with CD 39. Could be confused with HbC homozygous. A2 level and hematological data suggest an associated beta-thal.[PDF]
258HbCβD-10Dual Kit Program264.7Hb AC + alpha thal. The presence of an alpha thalassemia reduces the level of HbC and increases the microcytosis.[PDF]
265HbCβD-10Dual Kit Program32.34.7heterozygote[PDF]
361HbCβD-10Dual Kit Program75.54.69HbC homozygous or compound heterozygous with beta zero thalassaemia. [PDF]
413HbCβD-10Dual Kit Program79.34.69Homozygote.[PDF]
488HbCβD-10Dual Kit Program29.64.7compounnd heterozygote for HbC and Hb Korle Bu[PDF]
509HbCβD-10Dual Kit Program46.44.7Compound heterozygote for HbS and HbC[PDF]
518HbCβD-10Dual Kit Program46.34.7Compound heterozygote for HbS and HbC[PDF]
520HbCβD-10Dual Kit Program46.35.12Compound heterozygote for HbS and HbC[PDF]
528HbCβD-10Dual Kit Program43.64.71Compound heterozygote for HbS and HbC[PDF]
542HbCβD-10Dual Kit Program50.44.7Compound heterozygote for HbC and (delta-beta) zero thalassaemia. [PDF]
546HbCβD-10Dual Kit Program59.44.7heterozygote[PDF]
568HbCβD-10Dual Kit Program48.14.79Compound heterozygote for HbC and Hb O-Arab.[PDF]
17HbCβVARIANT IIDual Kit Program82.34.42Compound heterozygous with CD 39. Could be confused with HbC homozygous. A2 level and hematological data suggest an associated beta-thal.[PDF]
261HbCβVARIANT IIDual Kit Program24.94.438Hb AC + alpha thal. The presence of an alpha thalassemia reduces the level of HbC and increases the microcytosis. [PDF]
268HbCβVARIANT IIDual Kit Program32.24.433heterozygote[PDF]
364HbCβVARIANT IIDual Kit Program74.84.41Homozygous.[PDF]
416HbCβVARIANT IIDual Kit Program78.94.416Homozygote.[PDF]
513HbCβVARIANT IIDual Kit Program42.74.422Compound heterozygote for HbC and HbS[PDF]
522HbCβVARIANT IIDual Kit Program43.24.431Compound heterozygote for HbS and HbC.[PDF]
534HbCβVARIANT IIDual Kit Program40.84.423Compound heterozygote for HbS and HbC[PDF]
545HbCβVARIANT IIDual Kit Program504.414Compound heterozygote for HbC and (delta-beta) zero thalassaemia. [PDF]
549HbCβVARIANT IIDual Kit Program59.34.422Compound heterozygote for HbC and beta-thalassaemia. [PDF]
574HbCβVARIANT IIDual Kit Program43.84.419Compound heterozygosity for HbC and Hb O Arab.[PDF]
15HbCβVARIANTβ-thal Short Program84.25.09Compound heterozygous with CD 39. Could be confused with HbC homozygous. A2 level and hematological data suggest an associated beta-thal.[PDF]
259HbCβVARIANTβ-thal Short Program23.85.03Hb AC + alpha thal. The presence of an alpha thalassemia reduces the level of HbC and increases the microcytosis. [PDF]
266HbCβVARIANTβ-thal Short Program37.64heterozygote[PDF]
362HbCβVARIANTβ-thal Short Program79.45.06HbC homozygous or compound heterozygous with beta zero thalassaemia. [PDF]
414HbCβVARIANTβ-thal Short Program82.35.06Homozygote.[PDF]
489HbCβVARIANTβ-thal Short Program325.1compound heterozygote for HbC and Hb Korle Bu[PDF]
492HbCβVARIANTβ-thal Short Program29.95.11Compound heterozygote for HbC and HbS. Recently transfused.[PDF]
511HbCβVARIANTβ-thal Short Program45.85.1Compound heterozygote for HbC and HbS[PDF]
530HbCβVARIANTβ-thal Short Program45.95.11Compound heterozygote for HbS and HbC[PDF]
543HbCβVARIANTβ-thal Short Program61.15.1Compound heterozygote for HbC and (delta-beta) zero thalassaemia. [PDF]
547HbCβVARIANTβ-thal Short Program625.1Compound heterozygote for HbC and beta-thalassaemia. [PDF]
570HbCβVARIANTβ-thal Short Program47.75.12Compound heterozygote for HbC and Hb O-Arab.[PDF]
16HbCβVARIANT IIβ-thal Short Program86.85.16Compound heterozygous with CD 39. Could be confused with HbC homozygous. A2 level and hematological data suggest an associated beta-thal.[PDF]
260HbCβVARIANT IIβ-thal Short Program25.15.11Hb AC + alpha thal. The presence of an alpha thalassemia reduces the level of HbC and increases the microcytosis. [PDF]
267HbCβVARIANT IIβ-thal Short Program33.95.17heterozygote[PDF]
363HbCβVARIANT IIβ-thal Short Program18.54.86[PDF]
415HbCβVARIANT IIβ-thal Short Program85.45.13Homozygote.[PDF]
532HbCβVARIANT IIβ-thal Short Program44.65.17Compound heterozygote for HbS and HbC[PDF]
544HbCβVARIANT IIβ-thal Short Program60.55.15Compound heterozygote for HbC and (delta-beta) zero thalassaemia. [PDF]
548HbCβVARIANT IIβ-thal Short Program61.85.16Compound heterozygote for HbC and beta-thalassaemia. [PDF]
572HbCβVARIANT IIβ-thal Short Program47.75.15Compound heterozygote for HbC and Hb O-Arab.[PDF]
40HbCβVARIANT IIDual Kit Program - HbA1c41.72.04heterozygote[PDF]
32HbCβD-10HbA1c Program46.51.77Heterozygote[PDF]
34HbCβD-10HbA1c Program891.76Homozygote; HbC homozygote does not lead to a thal intermedia but to a mild microcytic anemia. [PDF]
33HbCβVARIANT IIHbA1c Program37.12.11Heterozygote[PDF]
35HbCβVARIANT IIHbA1c Program972.1Homozygote; HbC homozygote does not lead to a thal intermedia but to a mild microcytic anemia.[PDF]

Sequence Viewer

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Frequencies

Publications / Origin

  1. ITANO HA, NEEL JV, A new inherited abnormality of human hemoglobin., Proc. Natl. Acad. Sci. U.S.A. , 36(11), 613-7, 1950 PubMed
  2. NEEL JV, KAPLAN E, ZUELZER WW, Further studies on hemoglobin C. I. A description of three additional families segregating for hemoglobin C and sickle cell hemoglobin., Blood , 8(8), 724-34, 1953 PubMed
  3. RANNEY HM, LARSON DL, McCORMACK GH, Some clinical, biochemical and genetic observations on hemoglobin C., J. Clin. Invest. , 32(12), 1277-84, 1953 PubMed
  4. HUNT JA, INGRAM VM, A terminal peptide sequence of human haemoglobin?, Nature , 184(0), 640-1, 1959 PubMed
  5. SMITH EW, KREVANS JR, Clinical manifestations of hemoglobin C disorders., Bull Johns Hopkins Hosp , 104(1), 17-43, 1959 PubMed
  6. BAGLIONI C, INGRAM VM, Four adult haemoglobin types in one person., Nature , 189(0), 465-7, 1961 PubMed
  7. Fabry ME, Kaul DK, Raventos C, Baez S, Rieder R, Nagel RL, Some aspects of the pathophysiology of homozygous Hb CC erythrocytes., J. Clin. Invest. , 67(5), 1284-91, 1981 PubMed
  8. Boehm CD, Dowling CE, Antonarakis SE, Honig GR, Kazazian HH, Evidence supporting a single origin of the beta(C)-globin gene in blacks., Am. J. Hum. Genet. , 37(4), 771-7, 1985 PubMed
  9. Fischel-Ghodsian N, Hirsch PC, Bohlman MC, Rapid detection of the hemoglobin C mutation by allele-specific polymerase chain reaction., Am. J. Hum. Genet. , 47(6), 1023-4, 1990 PubMed
  10. Trabuchet G, Elion J, Dunda O, Lapouméroulie C, Ducrocq R, Nadifi S, Zohoun I, Chaventre A, Carnevale P, Nagel RL, Nucleotide sequence evidence of the unicentric origin of the beta C mutation in Africa., Hum. Genet. , 87(5), 597-601, 1991 PubMed
  11. Agarwal A, Guindo A, Cissoko Y, Taylor JG, Coulibaly D, Koné A, Kayentao K, Djimde A, Plowe CV, Doumbo O, Wellems TE, Diallo D, Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low prevalence of hemoglobin S., Blood , 96(7), 2358-63, 2000 PubMed
  12. Modiano D, Luoni G, Sirima BS, Simporé J, Verra F, Konaté A, Rastrelli E, Olivieri A, Calissano C, Paganotti GM, D'Urbano L, Sanou I, Sawadogo A, Modiano G, Coluzzi M, Haemoglobin C protects against clinical Plasmodium falciparum malaria., Nature , 414(6861), 305-8, 2001 PubMed
  13. Rihet P, Flori L, Tall F, Traore AS, Fumoux F, Hemoglobin C is associated with reduced Plasmodium falciparum parasitemia and low risk of mild malaria attack., Hum. Mol. Genet. , 13(1), 1-6, 2004 PubMed
  14. Modiano D, Bancone G, Ciminelli BM, Pompei F, Blot I, Simporé J, Modiano G, Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria., Hum. Mol. Genet. , 17(6), 789-99, 2008 PubMed
  15. Gouagna LC, Bancone G, Yao F, Yameogo B, Dabiré KR, Costantini C, Simporé J, Ouedraogo JB, Modiano D, Genetic variation in human HBB is associated with Plasmodium falciparum transmission., Nat. Genet. , 42(4), 328-31, 2010 PubMed
  16. Cyrklaff M, Sanchez CP, Kilian N, Bisseye C, Simpore J, Frischknecht F, Lanzer M, Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes., Science , 334(6060), 1283-6, 2011 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 19:17:44 (Show full history)

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