U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Sickle cell-hemoglobin C disease

MedGen UID:
5496
Concept ID:
C0019034
Disease or Syndrome
Synonyms: Hemoglobin S/C; Hemoglobin SC; Hemoglobin SC disease; Sickle cell-hemoglobin C disease syndrome
SNOMED CT: Hb SC disease (35434009); Sickle cell hemoglobin C (35434009); Double heterozygous for Hb S and Hb D (35434009); Hemoglobin S/C disease (35434009); Sickle cell anemia with hemoglobin C disease (35434009); Sickle cell-hemoglobin C disease (35434009); Hemoglobin S-C disease (35434009); HbS-HbC disease (35434009)
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).
 
Monarch Initiative: MONDO:0016669
Orphanet: ORPHA251365

Definition

A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis. [from ORDO]

Recent clinical studies

Etiology

Marcheco-Teruel B
MEDICC Rev 2019 Oct;21(4):34-38. doi: 10.37757/MR2019.V21.N4.6. PMID: 32335567
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
Vent-Schmidt J, Waltz X, Pichon A, Hardy-Dessources MD, Romana M, Connes P
Clin Hemorheol Microcirc 2015;59(2):115-21. doi: 10.3233/CH-131727. PMID: 23594502
Hassan M, Hasan S, Giday S, Alamgir L, Banks A, Frederick W, Smoot D, Castro O
J Natl Med Assoc 2003 Oct;95(10):939-42. PMID: 14620705Free PMC Article
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

Marcheco-Teruel B
MEDICC Rev 2019 Oct;21(4):34-38. doi: 10.37757/MR2019.V21.N4.6. PMID: 32335567
Lemaire C, Lamarre Y, Lemonne N, Waltz X, Chahed S, Cabot F, Botez I, Tressieres B, Lalanne-Mistrih ML, Etienne-Julan M, Connes P
Clin Hemorheol Microcirc 2013 Jan 1;55(2):205-12. doi: 10.3233/CH-2012-1622. PMID: 23076002Free PMC Article
Howard RJ, Lillis C, Tuck SM
BMJ 1993 Jun 26;306(6894):1735-7. doi: 10.1136/bmj.306.6894.1735. PMID: 8343632Free PMC Article
Williams S, Maude GH, Serjeant GR
J Pediatr 1986 Oct;109(4):586-9. doi: 10.1016/s0022-3476(86)80217-7. PMID: 3761071
Goldberg MF
Am J Ophthalmol 1979 Jan;87(1):43-9. doi: 10.1016/0002-9394(79)90190-9. PMID: 434052

Therapy

Ralstrom E, da Fonseca MA, Rhodes M, Amini H
Pediatr Dent 2014 Jan-Feb;36(1):24-8. PMID: 24717705
Centers for Disease Control and Prevention (CDC)
MMWR Morb Mortal Wkly Rep 1998 Mar 13;47(9):169-72. PMID: 9518280
Griffin TC, McIntire D, Buchanan GR
N Engl J Med 1994 Mar 17;330(11):733-7. doi: 10.1056/NEJM199403173301101. PMID: 8107739
Howard RJ, Lillis C, Tuck SM
BMJ 1993 Jun 26;306(6894):1735-7. doi: 10.1136/bmj.306.6894.1735. PMID: 8343632Free PMC Article
Koshy M, Burd L, Wallace D, Moawad A, Baron J
N Engl J Med 1988 Dec 1;319(22):1447-52. doi: 10.1056/NEJM198812013192204. PMID: 3054555

Prognosis

Aquino VM, Norvell JM, Buchanan GR
J Pediatr 1997 Jun;130(6):961-5. doi: 10.1016/s0022-3476(97)70284-1. PMID: 9202620
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
Fatunde OJ, Scott RB
Am J Pediatr Hematol Oncol 1986 Winter;8(4):329-33. doi: 10.1097/00043426-198624000-00011. PMID: 3799933
Williams S, Maude GH, Serjeant GR
J Pediatr 1986 Oct;109(4):586-9. doi: 10.1016/s0022-3476(86)80217-7. PMID: 3761071
Cunningham FG, Pritchard JA, Mason R
Obstet Gynecol 1983 Oct;62(4):419-24. PMID: 6888818

Clinical prediction guides

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
Lemaire C, Lamarre Y, Lemonne N, Waltz X, Chahed S, Cabot F, Botez I, Tressieres B, Lalanne-Mistrih ML, Etienne-Julan M, Connes P
Clin Hemorheol Microcirc 2013 Jan 1;55(2):205-12. doi: 10.3233/CH-2012-1622. PMID: 23076002Free PMC Article
Aquino VM, Norvell JM, Buchanan GR
J Pediatr 1997 Jun;130(6):961-5. doi: 10.1016/s0022-3476(97)70284-1. PMID: 9202620
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
Williams S, Maude GH, Serjeant GR
J Pediatr 1986 Oct;109(4):586-9. doi: 10.1016/s0022-3476(86)80217-7. PMID: 3761071

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
      ACMG ACT, Hemoglobin S/C, 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, FSC: Hemoglobin S/C Screening Result, 2023
    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Sickle Cell Disease, 2012
    • ACMG ACT Sheet, 2010
      American College of Medical Genetics ACT SHEET, Hemoglobin SC Disease, 2010
    • ACMG Algorithm, 2009
      American College of Medical Genetics and Genomics, Algorithm, Hb S Screening, 2009

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...