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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

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
Sickle cell disease and pregnancy.
Koshy M
Blood Rev 1995 Sep;9(3):157-64. doi: 10.1016/0268-960x(95)90021-7. PMID: 8563517
The spleen in children.
Lane PA
Curr Opin Pediatr 1995 Feb;7(1):36-41. doi: 10.1097/00008480-199502000-00008. PMID: 7728201
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
Hemoglobinopathies in pregnancy.
Jennings JC
Am Fam Physician 1977 Jan;15(1):104-10. PMID: 831388

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
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
Hemoglobinopathies in pregnancy.
Jennings JC
Am Fam Physician 1977 Jan;15(1):104-10. PMID: 831388
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
Human bulbar conjunctival hemodynamics in hemoglobin SS and SC disease.
Wanek J, Gaynes B, Lim JI, Molokie R, Shahidi M
Am J Hematol 2013 Aug;88(8):661-4. Epub 2013 Jun 12 doi: 10.1002/ajh.23475. PMID: 23657867Free PMC Article
Bacteremia in children with sickle hemoglobin C disease and sickle beta(+)-thalassemia: is prophylactic penicillin necessary?
Rogers ZR, Buchanan GR
J Pediatr 1995 Sep;127(3):348-54. doi: 10.1016/s0022-3476(95)70062-5. PMID: 7658261
Management of sickle cell anemia and pregnancy.
Koshy M, Chisum D, Burd L, Orlina A, How H
J Clin Apher 1991;6(4):230-3. doi: 10.1002/jca.2920060412. PMID: 1816245
Anemia in pregnancy.
Scott DE
Obstet Gynecol Annu 1972;1:219-44. PMID: 4591070

Prognosis

Bacteremia in children with sickle hemoglobin C disease and sickle beta(+)-thalassemia: is prophylactic penicillin necessary?
Rogers ZR, Buchanan GR
J Pediatr 1995 Sep;127(3):348-54. doi: 10.1016/s0022-3476(95)70062-5. PMID: 7658261
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
Hemoglobin S/C disease in a pregnant woman with crisis and fat embolization syndrome.
Chmel H, Bertles JF
Am J Med 1975 Apr;58(4):563-6. doi: 10.1016/0002-9343(75)90132-1. PMID: 1124792
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

Bacteremia in children with sickle hemoglobin C disease and sickle beta(+)-thalassemia: is prophylactic penicillin necessary?
Rogers ZR, Buchanan GR
J Pediatr 1995 Sep;127(3):348-54. doi: 10.1016/s0022-3476(95)70062-5. PMID: 7658261
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
Clinical presentation of sickle cell-hemoglobin C disease.
Williams S, Maude GH, Serjeant GR
J Pediatr 1986 Oct;109(4):586-9. doi: 10.1016/s0022-3476(86)80217-7. PMID: 3761071
Hereditary haemoglobin disorders in Brazil.
Zago MA, Costa FF
Trans R Soc Trop Med Hyg 1985;79(3):385-8. doi: 10.1016/0035-9203(85)90389-x. PMID: 3898485
Clinical, hematological, and biochemical features of Hb SC disease.
Ballas SK, Lewis CN, Noone AM, Krasnow SH, Kamarulzaman E, Burka ER
Am J Hematol 1982 Aug;13(1):37-51. doi: 10.1002/ajh.2830130106. PMID: 7137165

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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