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Sickle Cell-SS Disease

MedGen UID:
1388035
Concept ID:
C4321477
Disease or Syndrome
Synonyms: Hemoglobin SS; Hemoglobin SS Disease

Definition

A variant of sickle cell disease due to homozygosity of the E6V mutation, amino acid substitution of valine for glutamic acid in the sixth position of the beta chain, resulting in the production of hemoglobin S from both alleles. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSickle Cell-SS Disease

Professional guidelines

PubMed

Panigrahi S, Patra PK, Khodiar PK
Indian J Pediatr 2012 Jun;79(6):747-50. Epub 2012 Jan 26 doi: 10.1007/s12098-011-0682-8. PMID: 22278214
King L, Fraser R, Forbes M, Grindley M, Ali S, Reid M
J Med Screen 2007;14(3):117-22. doi: 10.1258/096914107782066185. PMID: 17925083
Brandelise S, Pinheiro V, Gabetta CS, Hambleton I, Serjeant B, Serjeant G
Clin Lab Haematol 2004 Feb;26(1):15-9. doi: 10.1111/j.0141-9854.2003.00576.x. PMID: 14738432

Recent clinical studies

Etiology

Dixit R, Nettem S, Madan SS, Soe HHK, Abas AB, Vance LD, Stover PJ
Cochrane Database Syst Rev 2018 Mar 16;3(3):CD011130. doi: 10.1002/14651858.CD011130.pub3. PMID: 29546732Free PMC Article
Jain D, Warthe V, Dayama P, Sarate D, Colah R, Mehta P, Serjeant G
Indian J Pediatr 2016 Oct;83(10):1071-6. Epub 2016 Apr 7 doi: 10.1007/s12098-016-2081-7. PMID: 27053181
Dixit R, Nettem S, Madan SS, Soe HH, Abas AB, Vance LD, Stover PJ
Cochrane Database Syst Rev 2016 Feb 16;2:CD011130. doi: 10.1002/14651858.CD011130.pub2. PMID: 26880182Free PMC Article
Serjeant GR
Cold Spring Harb Perspect Med 2013 Oct 1;3(10):a011783. doi: 10.1101/cshperspect.a011783. PMID: 23813607Free PMC Article
Driss A, Wilson NO, Mason K, Hyacinth HI, Hibbert JM, Serjeant GR, Stiles JK
Dis Markers 2012;32(5):295-300. doi: 10.3233/DMA-2011-0888. PMID: 22674409Free PMC Article

Diagnosis

Jain D, Tokalwar R, Upadhye D, Colah R, Serjeant GR
Indian J Med Res 2020 Apr;151(4):326-332. doi: 10.4103/ijmr.IJMR_1946_18. PMID: 32461396Free PMC Article
Ndugwa C, Higgs D, Fisher C, Hambleton I, Mason K, Serjeant BE, Serjeant GR
West Indian Med J 2012 Oct;61(7):684-91. PMID: 23620965
Brandelise S, Pinheiro V, Gabetta CS, Hambleton I, Serjeant B, Serjeant G
Clin Lab Haematol 2004 Feb;26(1):15-9. doi: 10.1111/j.0141-9854.2003.00576.x. PMID: 14738432
Serjeant GR, Ndugwa CM
East Afr Med J 2003 Jul;80(7):384-7. doi: 10.4314/eamj.v80i7.8724. PMID: 16167756
Marsh RJ, Ford SM, Rabb MF, Hayes RJ, Serjeant GR
Br J Ophthalmol 1982 Mar;66(3):155-60. doi: 10.1136/bjo.66.3.155. PMID: 7066265Free PMC Article

Therapy

Dixit R, Nettem S, Madan SS, Soe HHK, Abas AB, Vance LD, Stover PJ
Cochrane Database Syst Rev 2018 Mar 16;3(3):CD011130. doi: 10.1002/14651858.CD011130.pub3. PMID: 29546732Free PMC Article
Dixit R, Nettem S, Madan SS, Soe HH, Abas AB, Vance LD, Stover PJ
Cochrane Database Syst Rev 2016 Feb 16;2:CD011130. doi: 10.1002/14651858.CD011130.pub2. PMID: 26880182Free PMC Article
Manchikanti A, Grimes DA, Lopez LM, Schulz KF
Cochrane Database Syst Rev 2007 Apr 18;2007(2):CD006261. doi: 10.1002/14651858.CD006261.pub2. PMID: 17443618Free PMC Article
Knight-Madden J, Serjeant GR
J Pediatr 2001 Jan;138(1):65-70. doi: 10.1067/mpd.2001.109709. PMID: 11148514
De Ceulaer K, Gruber C, Hayes R, Serjeant GR
Lancet 1982 Jul 31;2(8292):229-31. doi: 10.1016/s0140-6736(82)90320-8. PMID: 6178915

Prognosis

Jain D, Tokalwar R, Upadhye D, Colah R, Serjeant GR
Indian J Med Res 2020 Apr;151(4):326-332. doi: 10.4103/ijmr.IJMR_1946_18. PMID: 32461396Free PMC Article
Jain D, Warthe V, Dayama P, Sarate D, Colah R, Mehta P, Serjeant G
Indian J Pediatr 2016 Oct;83(10):1071-6. Epub 2016 Apr 7 doi: 10.1007/s12098-016-2081-7. PMID: 27053181
Serjeant GR
Cold Spring Harb Perspect Med 2013 Oct 1;3(10):a011783. doi: 10.1101/cshperspect.a011783. PMID: 23813607Free PMC Article
Driss A, Wilson NO, Mason K, Hyacinth HI, Hibbert JM, Serjeant GR, Stiles JK
Dis Markers 2012;32(5):295-300. doi: 10.3233/DMA-2011-0888. PMID: 22674409Free PMC Article
Akenzua G, Akinyanju O, Kulozik A, Whitehead S, Morris J, Serjeant BE, Serjeant G
Afr J Med Med Sci 1994 Jun;23(2):101-7. PMID: 7542830

Clinical prediction guides

Lewis G, Thame M, Howitt C, Hambleton I, Serjeant GR
BJOG 2021 Sep;128(10):1703-1710. Epub 2021 Apr 6 doi: 10.1111/1471-0528.16696. PMID: 33683802
Dixit R, Nettem S, Madan SS, Soe HHK, Abas AB, Vance LD, Stover PJ
Cochrane Database Syst Rev 2018 Mar 16;3(3):CD011130. doi: 10.1002/14651858.CD011130.pub3. PMID: 29546732Free PMC Article
Dixit R, Nettem S, Madan SS, Soe HH, Abas AB, Vance LD, Stover PJ
Cochrane Database Syst Rev 2016 Feb 16;2:CD011130. doi: 10.1002/14651858.CD011130.pub2. PMID: 26880182Free PMC Article
Driss A, Wilson NO, Mason K, Hyacinth HI, Hibbert JM, Serjeant GR, Stiles JK
Dis Markers 2012;32(5):295-300. doi: 10.3233/DMA-2011-0888. PMID: 22674409Free PMC Article
Marsh RJ, Ford SM, Rabb MF, Hayes RJ, Serjeant GR
Br J Ophthalmol 1982 Mar;66(3):155-60. doi: 10.1136/bjo.66.3.155. PMID: 7066265Free PMC Article

Recent systematic reviews

Dixit R, Nettem S, Madan SS, Soe HHK, Abas AB, Vance LD, Stover PJ
Cochrane Database Syst Rev 2018 Mar 16;3(3):CD011130. doi: 10.1002/14651858.CD011130.pub3. PMID: 29546732Free PMC Article
Dixit R, Nettem S, Madan SS, Soe HH, Abas AB, Vance LD, Stover PJ
Cochrane Database Syst Rev 2016 Feb 16;2:CD011130. doi: 10.1002/14651858.CD011130.pub2. PMID: 26880182Free PMC Article
Manchikanti A, Grimes DA, Lopez LM, Schulz KF
Cochrane Database Syst Rev 2007 Apr 18;2007(2):CD006261. doi: 10.1002/14651858.CD006261.pub2. PMID: 17443618Free PMC Article

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