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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

Neonatal screening of sickle cell anemia: a preliminary report.
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
Newborn sickle cell disease screening: the Jamaican experience (1995-2006).
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
Newborn screening for sickle cell disease in Brazil: the Campinas experience.
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

Pregnancy outcome in homozygous sickle cell disease: observations from the Jamaican Birth Cohort.
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
Folate supplementation in people with sickle cell disease.
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
Sickle Cell Disease in Central India: A Potentially Severe Syndrome.
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
Folate supplementation in people with sickle cell disease.
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
The natural history of sickle cell disease.
Serjeant GR
Cold Spring Harb Perspect Med 2013 Oct 1;3(10):a011783. doi: 10.1101/cshperspect.a011783. PMID: 23813607Free PMC Article

Diagnosis

Homozygous sickle cell disease in Central India & Jamaica: A comparison of newborn cohorts.
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
Homozygous sickle cell disease in Uganda and Jamaica a comparison of Bantu and Benin haplotypes.
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
Sickle haemoglobin and haemoglobin Stanleyville II: possible confusion with sickle cell-haemoglobin C disease.
Serjeant GR, Wild B, Tebasulwa S, Mason KP, Serjeant BE, Ndugwa CM
East Afr Med J 2005 Jul;82(7):367-70. PMID: 16167711
Newborn screening for sickle cell disease in Brazil: the Campinas experience.
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
Sickle cell disease in Uganda: a time for action.
Serjeant GR, Ndugwa CM
East Afr Med J 2003 Jul;80(7):384-7. doi: 10.4314/eamj.v80i7.8724. PMID: 16167756

Therapy

Folate supplementation in people with sickle cell disease.
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
Folate supplementation in people with sickle cell disease.
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
Steroid hormones for contraception in women with sickle cell disease.
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
Invasive pneumococcal disease in homozygous sickle cell disease: Jamaican experience 1973-1997.
Knight-Madden J, Serjeant GR
J Pediatr 2001 Jan;138(1):65-70. doi: 10.1067/mpd.2001.109709. PMID: 11148514
Medroxyprogesterone acetate and homozygous sickle-cell disease.
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

Homozygous sickle cell disease in Central India & Jamaica: A comparison of newborn cohorts.
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
Sickle Cell Disease in Central India: A Potentially Severe Syndrome.
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
The natural history of sickle cell disease.
Serjeant GR
Cold Spring Harb Perspect Med 2013 Oct 1;3(10):a011783. doi: 10.1101/cshperspect.a011783. PMID: 23813607Free PMC Article
Sickle cell disease and age at menarche in Jamaican girls: observations from a cohort study.
Serjeant GR, Singhal A, Hambleton IR
Arch Dis Child 2001 Nov;85(5):375-8. doi: 10.1136/adc.85.5.375. PMID: 11668096Free PMC Article
Invasive pneumococcal disease in homozygous sickle cell disease: Jamaican experience 1973-1997.
Knight-Madden J, Serjeant GR
J Pediatr 2001 Jan;138(1):65-70. doi: 10.1067/mpd.2001.109709. PMID: 11148514

Clinical prediction guides

Pregnancy outcome in homozygous sickle cell disease: observations from the Jamaican Birth Cohort.
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
Homozygous sickle cell disease in Central India & Jamaica: A comparison of newborn cohorts.
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
Folate supplementation in people with sickle cell disease.
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
Folate supplementation in people with sickle cell disease.
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
Homozygous sickle cell disease in Uganda and Jamaica a comparison of Bantu and Benin haplotypes.
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

Recent systematic reviews

Folate supplementation in people with sickle cell disease.
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
Folate supplementation in people with sickle cell disease.
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
Steroid hormones for contraception in women with sickle cell disease.
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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