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Sickle Beta 0 Thalassemia

MedGen UID:
476096
Concept ID:
C3274463
Disease or Syndrome
Synonyms: Hb S Beta 0 Thalassemia; Hemoglobin S Beta 0 Thalassemia; S Beta 0 Thalassemia

Definition

A form of sickle cell thalassemia characterized by the absence of hemoglobin A. Patients usually have severe anemia identical to that seen in sickle cell disease. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Noronha SA, Sadreameli SC, Strouse JJ
South Med J 2016 Sep;109(9):495-502. doi: 10.14423/SMJ.0000000000000523. PMID: 27598348

Recent clinical studies

Etiology

Derebail VK, Ciccone EJ, Zhou Q, Kilgore RR, Cai J, Ataga KI
Am J Kidney Dis 2019 Jul;74(1):47-55. Epub 2019 Feb 21 doi: 10.1053/j.ajkd.2018.12.027. PMID: 30797615Free PMC Article
Niihara Y, Miller ST, Kanter J, Lanzkron S, Smith WR, Hsu LL, Gordeuk VR, Viswanathan K, Sarnaik S, Osunkwo I, Guillaume E, Sadanandan S, Sieger L, Lasky JL, Panosyan EH, Blake OA, New TN, Bellevue R, Tran LT, Razon RL, Stark CW, Neumayr LD, Vichinsky EP; Investigators of the Phase 3 Trial of l-Glutamine in Sickle Cell Disease
N Engl J Med 2018 Jul 19;379(3):226-235. doi: 10.1056/NEJMoa1715971. PMID: 30021096
Eckrich MJ, Wang WC, Yang E, Arbogast PG, Morrow A, Dudley JA, Ray WA, Cooper WO
Pediatr Blood Cancer 2013 Feb;60(2):270-4. Epub 2012 Jun 28 doi: 10.1002/pbc.24240. PMID: 22744996
Isma'eel H, Arnaout MS, Shamseddeen W, Mahfouz R, Zeineh N, Jradi O, Taher A
J Thromb Thrombolysis 2006 Oct;22(2):121-3. doi: 10.1007/s11239-006-8953-3. PMID: 17008978
Platt OS, Thorington BD, Brambilla DJ, Milner PF, Rosse WF, Vichinsky E, Kinney TR
N Engl J Med 1991 Jul 4;325(1):11-6. doi: 10.1056/NEJM199107043250103. PMID: 1710777

Diagnosis

Derebail VK, Ciccone EJ, Zhou Q, Kilgore RR, Cai J, Ataga KI
Am J Kidney Dis 2019 Jul;74(1):47-55. Epub 2019 Feb 21 doi: 10.1053/j.ajkd.2018.12.027. PMID: 30797615Free PMC Article
Panepinto JA, Magid D, Rewers MJ, Lane PA
J Pediatr 2000 Feb;136(2):201-8. doi: 10.1016/s0022-3476(00)70102-8. PMID: 10657826
el Mouzan MI, al Awamy BH, al Torki MT
Am J Pediatr Hematol Oncol 1990 Spring;12(1):51-5. doi: 10.1097/00043426-199021000-00009. PMID: 1689968

Therapy

Niihara Y, Miller ST, Kanter J, Lanzkron S, Smith WR, Hsu LL, Gordeuk VR, Viswanathan K, Sarnaik S, Osunkwo I, Guillaume E, Sadanandan S, Sieger L, Lasky JL, Panosyan EH, Blake OA, New TN, Bellevue R, Tran LT, Razon RL, Stark CW, Neumayr LD, Vichinsky EP; Investigators of the Phase 3 Trial of l-Glutamine in Sickle Cell Disease
N Engl J Med 2018 Jul 19;379(3):226-235. doi: 10.1056/NEJMoa1715971. PMID: 30021096
Noronha SA, Sadreameli SC, Strouse JJ
South Med J 2016 Sep;109(9):495-502. doi: 10.14423/SMJ.0000000000000523. PMID: 27598348
Miller ST, Wright E, Abboud M, Berman B, Files B, Scher CD, Styles L, Adams RJ; STOP Investigators
J Pediatr 2001 Dec;139(6):785-9. doi: 10.1067/mpd.2001.119593. PMID: 11743502

Prognosis

Derebail VK, Ciccone EJ, Zhou Q, Kilgore RR, Cai J, Ataga KI
Am J Kidney Dis 2019 Jul;74(1):47-55. Epub 2019 Feb 21 doi: 10.1053/j.ajkd.2018.12.027. PMID: 30797615Free PMC Article
Platt OS, Thorington BD, Brambilla DJ, Milner PF, Rosse WF, Vichinsky E, Kinney TR
N Engl J Med 1991 Jul 4;325(1):11-6. doi: 10.1056/NEJM199107043250103. PMID: 1710777
el Mouzan MI, al Awamy BH, al Torki MT
Am J Pediatr Hematol Oncol 1990 Spring;12(1):51-5. doi: 10.1097/00043426-199021000-00009. PMID: 1689968
Pembrey ME, Perrine RP, Wood WG, Weatherall DJ
Am J Hum Genet 1980 Jan;32(1):26-41. PMID: 6153864Free PMC Article

Clinical prediction guides

Derebail VK, Ciccone EJ, Zhou Q, Kilgore RR, Cai J, Ataga KI
Am J Kidney Dis 2019 Jul;74(1):47-55. Epub 2019 Feb 21 doi: 10.1053/j.ajkd.2018.12.027. PMID: 30797615Free PMC Article
Miller ST, Wright E, Abboud M, Berman B, Files B, Scher CD, Styles L, Adams RJ; STOP Investigators
J Pediatr 2001 Dec;139(6):785-9. doi: 10.1067/mpd.2001.119593. PMID: 11743502
Platt OS, Thorington BD, Brambilla DJ, Milner PF, Rosse WF, Vichinsky E, Kinney TR
N Engl J Med 1991 Jul 4;325(1):11-6. doi: 10.1056/NEJM199107043250103. PMID: 1710777

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