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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

The distribution of haemoglobin C and its prevalence in newborns in Africa.
Piel FB, Howes RE, Patil AP, Nyangiri OA, Gething PW, Bhatt S, Williams TN, Weatherall DJ, Hay SI
Sci Rep 2013;3:1671. doi: 10.1038/srep01671. PMID: 23591685Free PMC Article
Investigation of microcytosis: a comprehensive approach.
Mach-Pascual S, Darbellay R, Pilotto PA, Beris P
Eur J Haematol 1996 Jul;57(1):54-61. doi: 10.1111/j.1600-0609.1996.tb00490.x. PMID: 8698132
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
Sickling syndromes in children.
Honig GR
Adv Pediatr 1976;23:271-313. PMID: 795281
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
Anemia in pregnancy.
Scott DE, Pritchard JA
Clin Perinatol 1974 Sep;1(2):491-506. PMID: 4620160
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

Rheumatoid arthritis in patient with homozygous haemoglobin C disease.
Ali Ou Alla S, Allali F, Hajjaj-Hassouni N
Rheumatol Int 2011 Jun;31(6):801-3. Epub 2009 Oct 25 doi: 10.1007/s00296-009-1230-y. PMID: 19855969
Acquired tuftsin deficiency.
Spirer Z, Zakuth V, Orda R, Wiznitzer T, Mondorf W, Stefanescu T, Fridkin M
Ann N Y Acad Sci 1983;419:220-6. doi: 10.1111/j.1749-6632.1983.tb37107.x. PMID: 6424535
Anemia in pregnancy.
Scott DE, Pritchard JA
Clin Perinatol 1974 Sep;1(2):491-506. PMID: 4620160
Anaesthesia in sickle-cell states: a plea for simplicity.
Oduro KA, Searle JF
Br Med J 1972 Dec 9;4(5840):596-8. doi: 10.1136/bmj.4.5840.596. PMID: 4643397Free PMC Article
Anemia in pregnancy.
Scott DE
Obstet Gynecol Annu 1972;1:219-44. PMID: 4591070

Prognosis

The distribution of haemoglobin C and its prevalence in newborns in Africa.
Piel FB, Howes RE, Patil AP, Nyangiri OA, Gething PW, Bhatt S, Williams TN, Weatherall DJ, Hay SI
Sci Rep 2013;3:1671. doi: 10.1038/srep01671. PMID: 23591685Free PMC Article
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
Haemoglobinopathies in pregnancy.
Huntsman RG
J Clin Pathol Suppl (R Coll Pathol) 1976;10:42-53. PMID: 1067269Free PMC Article
Sickling syndromes in children.
Honig GR
Adv Pediatr 1976;23:271-313. PMID: 795281
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

Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.
Andres O, Loewecke F, Morbach H, Kraus S, Einsele H, Eber S, Speer CP
Br J Haematol 2019 Nov;187(3):386-395. Epub 2019 Jul 5 doi: 10.1111/bjh.16084. PMID: 31273765
Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.
Yang E, Voelkel EB, Lezon-Geyda K, Schulz VP, Gallagher PG
Pediatr Blood Cancer 2017 Aug;64(8) Epub 2017 Jan 25 doi: 10.1002/pbc.26444. PMID: 28121068Free PMC Article
Forecasting hemoglobinopathy burden through neonatal screening in Omani neonates.
Alkindi S, Al Zadjali S, Al Madhani A, Daar S, Al Haddabi H, Al Abri Q, Gravell D, Berbar T, Pravin S, Pathare A, Krishnamoorthy R
Hemoglobin 2010 Jan;34(2):135-44. doi: 10.3109/03630261003677213. PMID: 20353348
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
Early deaths in Jamaican children with sickle cell disease.
Rogers DW, Clarke JM, Cupidore L, Ramlal AM, Sparke BR, Serjeant GR
Br Med J 1978 Jun 10;1(6126):1515-6. doi: 10.1136/bmj.1.6126.1515. PMID: 656779Free PMC Article

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