U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease.
Baptista LC, Costa ML, Ferreira R, Albuquerque DM, Lanaro C, Fertrin KY, Surita FG, Parpinelli MA, Costa FF, Melo MB
Ann Hematol 2016 Oct;95(11):1859-67. Epub 2016 Aug 22 doi: 10.1007/s00277-016-2780-1. PMID: 27546026
Rheology of red blood cells in patients with HbC disease.
Lemonne N, Billaud M, Waltz X, Romana M, Hierso R, Etienne-Julan M, Connes P
Clin Hemorheol Microcirc 2016;61(4):571-7. doi: 10.3233/CH-141906. PMID: 25335812
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
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

Diagnosis

Hemoglobin C disease.
Bain BJ
Am J Hematol 2015 Feb;90(2):174. doi: 10.1002/ajh.23915. PMID: 25488433
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
Hemoglobinopathies in pregnancy.
Jennings JC
Am Fam Physician 1977 Jan;15(1):104-10. PMID: 831388
Hemoglobinopathies in pregnancy.
Horger EO 3rd
Clin Obstet Gynecol 1974 Dec;17(4):127-62. doi: 10.1097/00003081-197412000-00011. PMID: 4615856
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

Point-of-care screening for sickle cell disease in low-resource settings: A multi-center evaluation of HemoTypeSC, a novel rapid test.
Steele C, Sinski A, Asibey J, Hardy-Dessources MD, Elana G, Brennan C, Odame I, Hoppe C, Geisberg M, Serrao E, Quinn CT
Am J Hematol 2019 Jan;94(1):39-45. Epub 2018 Oct 31 doi: 10.1002/ajh.25305. PMID: 30290004Free PMC Article
The impact of sickle cell disease on oral health-related quality of life.
Ralstrom E, da Fonseca MA, Rhodes M, Amini H
Pediatr Dent 2014 Jan-Feb;36(1):24-8. PMID: 24717705
Elevated plasma levels and platelet-associated expression of the pro-thrombotic and pro-inflammatory protein, TNFSF14 (LIGHT), in sickle cell disease.
Garrido VT, Proença-Ferreira R, Dominical VM, Traina F, Bezerra MA, de Mello MR, Colella MP, Araújo AS, Saad ST, Costa FF, Conran N
Br J Haematol 2012 Sep;158(6):788-97. Epub 2012 Jul 6 doi: 10.1111/j.1365-2141.2012.09218.x. PMID: 22775554
Survival of children with sickle cell disease.
Quinn CT, Rogers ZR, Buchanan GR
Blood 2004 Jun 1;103(11):4023-7. Epub 2004 Feb 5 doi: 10.1182/blood-2003-11-3758. PMID: 14764527Free 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
Outcome of pregnancy in sickle cell anemia and sickle cell-hemoglobin C disease. An analysis of 181 pregnancies in 98 patients, and a review of the literature.
Milner PF, Jones BR, Döbler J
Am J Obstet Gynecol 1980 Oct 1;138(3):239-45. doi: 10.1016/0002-9378(80)90241-0. PMID: 7416213
Haemoglobinopathies in pregnancy.
Huntsman RG
J Clin Pathol Suppl (R Coll Pathol) 1976;10:42-53. PMID: 1067269Free PMC Article
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

Rheology of red blood cells in patients with HbC disease.
Lemonne N, Billaud M, Waltz X, Romana M, Hierso R, Etienne-Julan M, Connes P
Clin Hemorheol Microcirc 2016;61(4):571-7. doi: 10.3233/CH-141906. PMID: 25335812
The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease.
Moreira Neto F, Lourenço DM, Noguti MA, Morelli VM, Gil IC, Beltrão AC, Figueiredo MS
Braz J Med Biol Res 2006 Oct;39(10):1291-5. Epub 2006 Aug 22 doi: 10.1590/s0100-879x2006001000004. PMID: 16906320
Survival of children with sickle cell disease.
Quinn CT, Rogers ZR, Buchanan GR
Blood 2004 Jun 1;103(11):4023-7. Epub 2004 Feb 5 doi: 10.1182/blood-2003-11-3758. PMID: 14764527Free 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
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

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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...