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Hemoglobin C disease

MedGen UID:
6789
•Concept ID:
C0019021
•
Disease or Syndrome
Synonym: Hb C disease
SNOMED CT: Homozygous for Hb C (51053007); Hemoglobin C disease (51053007); Hemoglobin C-C disease (51053007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016242
Orphanet: ORPHA2132

Definition

Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemoglobin C disease
Follow this link to review classifications for Hemoglobin C disease in Orphanet.

Recent clinical studies

Etiology

Mortality in sickle cell disease. Life expectancy and risk factors for early death.
Platt OS, Brambilla DJ, Rosse WF, Milner PF, Castro O, Steinberg MH, Klug PP
N Engl J Med 1994 Jun 9;330(23):1639-44. doi: 10.1056/NEJM199406093302303. PMID: 7993409
Hemoglobin C disease in infancy and childhood.
Olson JF, Ware RE, Schultz WH, Kinney TR
J Pediatr 1994 Nov;125(5 Pt 1):745-7. doi: 10.1016/s0022-3476(94)70068-0. PMID: 7965426
Vasoocclusion with homozygous hemoglobin-C disease.
Fort JA, Graham-Pole JR, Chopik J
Am J Pediatr Hematol Oncol 1988 Winter;10(4):323-5. doi: 10.1097/00043426-198824000-00011. PMID: 3239710
Motherhood with sickle cell and sickle-C disease is not worth the risk.
Fort AT, Morrison JC
South Med J 1972 May;65(5):531-3. doi: 10.1097/00007611-197205000-00005. PMID: 5027456
The sickle-cell and altitude.
Green RL, Huntsman RG, Serjeant GR
Br Med J 1971 Dec 4;4(5787):593-5. doi: 10.1136/bmj.4.5787.593. PMID: 5130214Free PMC Article

Diagnosis

A Deep C Dive.
Ju JY, Wiencek JR
Clin Chem 2020 Jun 1;66(6):860-861. doi: 10.1093/clinchem/hvaa034. PMID: 32470123
Hemoglobin C disease.
Bain BJ
Am J Hematol 2015 Feb;90(2):174. doi: 10.1002/ajh.23915. PMID: 25488433
Hemoglobinopathies in pregnancy.
Horger EO 3rd
Clin Obstet Gynecol 1974 Dec;17(4):127-62. doi: 10.1097/00003081-197412000-00011. PMID: 4615856
Anemia in pregnancy.
Scott DE
Obstet Gynecol Annu 1972;1:219-44. PMID: 4591070
The haemoglobinopathies.
Bird GW
Br Med J 1972 Feb 5;1(5796):363-8. doi: 10.1136/bmj.1.5796.363. PMID: 4550414Free PMC Article

Therapy

Homozygous hemoglobin C disease.
Dalia S, Zhang L
Blood 2013 Sep 5;122(10):1694. doi: 10.1182/blood-2013-04-498188. PMID: 24137818
Vasoocclusion with homozygous hemoglobin-C disease.
Fort JA, Graham-Pole JR, Chopik J
Am J Pediatr Hematol Oncol 1988 Winter;10(4):323-5. doi: 10.1097/00043426-198824000-00011. PMID: 3239710
Anemia in pregnancy.
Scott DE, Pritchard JA
Clin Perinatol 1974 Sep;1(2):491-506. PMID: 4620160
Anemia in pregnancy.
Scott DE
Obstet Gynecol Annu 1972;1:219-44. PMID: 4591070
The relation between age and renal concentrating capacity in sickle cell disease and hemoglobin C disease.
Statius van Eps LW, Schouten H, Haar Romeny-Wachter CC, La Porte-Wijsman LW
Clin Chim Acta 1970 Mar;27(3):501-11. doi: 10.1016/0009-8981(70)90305-0. PMID: 5435231

Prognosis

Mortality in sickle cell disease. Life expectancy and risk factors for early death.
Platt OS, Brambilla DJ, Rosse WF, Milner PF, Castro O, Steinberg MH, Klug PP
N Engl J Med 1994 Jun 9;330(23):1639-44. doi: 10.1056/NEJM199406093302303. PMID: 7993409
Vasoocclusion with homozygous hemoglobin-C disease.
Fort JA, Graham-Pole JR, Chopik J
Am J Pediatr Hematol Oncol 1988 Winter;10(4):323-5. doi: 10.1097/00043426-198824000-00011. PMID: 3239710
Sickling syndromes in children.
Honig GR
Adv Pediatr 1976;23:271-313. PMID: 795281
Motherhood with sickle cell and sickle-C disease is not worth the risk.
Fort AT, Morrison JC
South Med J 1972 May;65(5):531-3. doi: 10.1097/00007611-197205000-00005. PMID: 5027456
The haemoglobinopathies.
Bird GW
Br Med J 1972 Feb 5;1(5796):363-8. doi: 10.1136/bmj.1.5796.363. PMID: 4550414Free PMC Article

Clinical prediction guides

"In vivo" and "in vitro" demonstration of hemoglobin C crystals in non-splenectomized patients.
Araújo JT, Batissoco AC, Bodemeier L
Rev Inst Med Trop Sao Paulo 1999 Jul-Aug;41(4):235-8. doi: 10.1590/s0036-46651999000400006. PMID: 10564917
A potential determinant of enhanced crystallization of Hbc: spectroscopic and functional evidence of an alteration in the central cavity of oxyHbC.
Hirsch RE, Rybicki AC, Fataliev NA, Lin MJ, Friedman JM, Nagel RL
Br J Haematol 1997 Sep;98(3):583-8. doi: 10.1046/j.1365-2141.1997.2483062.x. PMID: 9332311
Mortality in sickle cell disease. Life expectancy and risk factors for early death.
Platt OS, Brambilla DJ, Rosse WF, Milner PF, Castro O, Steinberg MH, Klug PP
N Engl J Med 1994 Jun 9;330(23):1639-44. doi: 10.1056/NEJM199406093302303. PMID: 7993409
Red cell life span in sickle cell-hemoglobin C disease with a note about sickle cell-hemoglobin O ARAB.
McCurdy PR, Mahmood L, Sherman AS
Blood 1975 Feb;45(2):273-9. PMID: 1120186
Studies in sickle-cell anemia. V. Sickle-cell hemoglobin C disease; report of two cases in siblings with clinical and genetic observations and a brief review of the literature.
SCOTT RB, JENKINS ME
AMA Am J Dis Child 1955 Jul;90(1):35-42. doi: 10.1001/archpedi.1955.04030010037006. PMID: 14387282

Recent systematic reviews

Thrombosis risk with haemoglobin C trait and haemoglobin C disease: A systematic review.
Jacobs JW, Sharma D, Stephens LD, Figueroa Villalba CA, Rinder HM, Woo JS, Wheeler AP, Gerberi D, Goel R, Tormey CA, Booth GS, Bloch EM, Adkins BD
Br J Haematol 2024 Apr;204(4):1500-1506. Epub 2024 Jan 30 doi: 10.1111/bjh.19313. PMID: 38291731

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2023
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, FC, Hemoglobin C/C or Hemoglobin C/Beta Zero Thalassemia, 2023
    • ACMG ACT, 2023
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, FCA, Hemoglobin C/Beta Plus Thalassemia (HbC/ß+ Disease), 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, FC, FCA: Hemoglobin C Screening Results, 2023
    • ACMG Algorithm, 2009
      American College of Medical Genetics and Genomics, Algorithm, Hb Screening (non-S), 2009

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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