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Beta zero thalassemia

MedGen UID:
506753
Concept ID:
C0271980
Disease or Syndrome
Synonym: BETA-ZERO-THALASSEMIA
SNOMED CT: Beta zero thalassemia (86715000); beta zero thalassemia (86715000); Beta 0 thalassemia (86715000)
 
OMIM®: 141900

Recent clinical studies

Etiology

Anderson AT, Mack WJ, Horiuchi SS, Paulukonis S, Zhou M, Snyder AB, Doctor JN, Kipke M, Coates T, Freed G
Pediatrics 2024 Apr 1;153(4) doi: 10.1542/peds.2022-060804. PMID: 38444343Free PMC Article
Kotwal N, Pillai DK, Darbari DS, Sun K, Koumbourlis AC
J Pediatr Hematol Oncol 2022 Aug 1;44(6):e923-e925. Epub 2021 Dec 30 doi: 10.1097/MPH.0000000000002371. PMID: 34966092
Sahib S, Hanna M, Miller ST
J Pediatr Hematol Oncol 2021 Jan;43(1):28-30. doi: 10.1097/MPH.0000000000001774. PMID: 32134840
Cürük MA, Kutlar A, Huisman TH
Hemoglobin 1992;16(5):417-9. doi: 10.3109/03630269209005694. PMID: 1428946
Zago MA, Costa F, Bottura C
Braz J Med Biol Res 1981 Dec;14(6):383-8. PMID: 6086110

Diagnosis

Sahib S, Hanna M, Miller ST
J Pediatr Hematol Oncol 2021 Jan;43(1):28-30. doi: 10.1097/MPH.0000000000001774. PMID: 32134840
Valadão Cardoso A
PLoS One 2020;15(2):e0229105. Epub 2020 Feb 21 doi: 10.1371/journal.pone.0229105. PMID: 32084188Free PMC Article
Oshima K, Harano T, Harano K
Am J Hematol 1996 May;52(1):39-41. doi: 10.1002/(SICI)1096-8652(199605)52:1<39::AID-AJH6>3.0.CO;2-7. PMID: 8638609
Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL
Blood 1994 Mar 15;83(6):1673-82. PMID: 7510147
Chang JC, Alberti A, Kan YW
Nucleic Acids Res 1983 Nov 25;11(22):7789-94. doi: 10.1093/nar/11.22.7789. PMID: 6316272Free PMC Article

Therapy

Kotwal N, Pillai DK, Darbari DS, Sun K, Koumbourlis AC
J Pediatr Hematol Oncol 2022 Aug 1;44(6):e923-e925. Epub 2021 Dec 30 doi: 10.1097/MPH.0000000000002371. PMID: 34966092
Sahib S, Hanna M, Miller ST
J Pediatr Hematol Oncol 2021 Jan;43(1):28-30. doi: 10.1097/MPH.0000000000001774. PMID: 32134840
Figueroa TE, Benaim E, Griggs ST, Hvizdala EV
J Urol 1995 Jun;153(6):1987-9. PMID: 7752379
Koshy M, Weiner SJ, Miller ST, Sleeper LA, Vichinsky E, Brown AK, Khakoo Y, Kinney TR
Blood 1995 Nov 15;86(10):3676-84. PMID: 7579333
Rodgers GP, Dover GJ, Uyesaka N, Noguchi CT, Schechter AN, Nienhuis AW
N Engl J Med 1993 Jan 14;328(2):73-80. doi: 10.1056/NEJM199301143280201. PMID: 7677965

Prognosis

Sahib S, Hanna M, Miller ST
J Pediatr Hematol Oncol 2021 Jan;43(1):28-30. doi: 10.1097/MPH.0000000000001774. PMID: 32134840
Cürük MA, Kutlar A, Huisman TH
Hemoglobin 1992;16(5):417-9. doi: 10.3109/03630269209005694. PMID: 1428946
Waye JS, Chui DH, Eng B, Cai SP, Coleman MB, Adams JG 3rd, Steinberg MH
Am J Hematol 1991 Oct;38(2):108-12. doi: 10.1002/ajh.2830380207. PMID: 1719807
Alayash AI, Bonaventura J, al-Quorain A
Hum Hered 1989;39(2):118-20. doi: 10.1159/000153847. PMID: 2474488
Trecartin RF, Liebhaber SA, Chang JC, Lee KY, Kan YW, Furbetta M, Angius A, Cao A
J Clin Invest 1981 Oct;68(4):1012-7. doi: 10.1172/jci110323. PMID: 6457059Free PMC Article

Clinical prediction guides

Dale JC, Cochran CJ, Roy L, Jernigan E, Buchanan GR
J Pediatr Health Care 2011 Jul-Aug;25(4):208-15. Epub 2010 Apr 2 doi: 10.1016/j.pedhc.2009.12.006. PMID: 21700135Free PMC Article
Indrak K, Fei YJ, Li HW, Baysal E, Brabec V, Fortova H, Cermak J, Huisman TH
Ann Hematol 1991 Jul;63(1):42-4. doi: 10.1007/BF01714960. PMID: 1878422
Loukopoulos D, Poyart C, Delanoe-Garin J, Matsis C, Arous N, Kister J, Loutradi-Anagnostou A, Blouquit Y, Fessas P, Thillet J
Hemoglobin 1986;10(2):143-59. doi: 10.3109/03630268609046441. PMID: 3957694
Yang KG, Liu JZ, Kutlar F, Kutlar A, Altay C, Gurgey A, Huisman TH
Blood 1986 Dec;68(6):1394-7. PMID: 2430648
Trecartin RF, Liebhaber SA, Chang JC, Lee KY, Kan YW, Furbetta M, Angius A, Cao A
J Clin Invest 1981 Oct;68(4):1012-7. doi: 10.1172/jci110323. PMID: 6457059Free PMC Article

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 Algorithm, 2023
      ACMG Algorithm, Hemoglobin F Only or F with Decreased A: Transfusion Dependent or Non Transfusion Dependent beta-Thalassemia; Hb beta 0 Thalassemia; Hb beta+/beta+ Thalassemia; Hb beta0/beta+ Thalassemia Screening Result, 2023
    • ACMG ACT, 2023
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hemoglobin F-Only; Hemoglobin F With Decreased A, 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, FS: Hemoglobin S Screening Result, 2023
    • ACMG ACT Sheet, 2023
      American College of Medical Genetics ACT SHEET, Sickle Cell Anemia, 2023
    • ACMG ACT, 2023
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, FE, Hemoglobin EE or Hemoglobin E/Beta Zero Thalassemia (Hb EE or Hb E/ß0 Disease), 2023
    • ACMG Algorithm, 2009
      American College of Medical Genetics and Genomics, Algorithm, Hb Screening (non-S), 2009

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