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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

National Quality Indicators in Pediatric Sickle Cell Anemia.
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
Thrombophilic mutations among Southern Iranian patients with sickle cell disease: high prevalence of factor V Leiden.
Rahimi Z, Vaisi-Raygani A, Nagel RL, Muniz A
J Thromb Thrombolysis 2008 Jun;25(3):288-92. Epub 2007 Jul 11 doi: 10.1007/s11239-007-0069-x. PMID: 17619828
Surgery and anesthesia in sickle cell disease. Cooperative Study of Sickle Cell Diseases.
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
Molecular analysis of beta zero-thalassemia intermedia in Sardinia.
Galanello R, Dessi E, Melis MA, Addis M, Sanna MA, Rosatelli C, Argiolu F, Giagu N, Turco MP, Cacace E
Blood 1989 Aug 1;74(2):823-7. PMID: 2473806
Beta-thalassemia in Brazil.
Zago MA, Costa F, Bottura C
Braz J Med Biol Res 1981 Dec;14(6):383-8. PMID: 6086110

Diagnosis

An experimental erythrocyte rigidity index (Ri) and its correlations with Transcranial Doppler velocities (TAMMV), Gosling Pulsatility Index PI, hematocrit, hemoglobin concentration and red cell distribution width (RDW).
Valadão Cardoso A
PLoS One 2020;15(2):e0229105. Epub 2020 Feb 21 doi: 10.1371/journal.pone.0229105. PMID: 32084188Free PMC Article
Frequency of positive XmnIGgamma polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation.
Neishabury M, Azarkeivan A, Najmabadi H
Blood Cells Mol Dis 2010 Mar-Apr;44(2):95-9. Epub 2009 Nov 4 doi: 10.1016/j.bcmd.2009.10.007. PMID: 19892574
Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification.
Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL
Blood 1994 Mar 15;83(6):1673-82. PMID: 7510147
Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron.
Metherall JE, Collins FS, Pan J, Weissman SM, Forget BG
EMBO J 1986 Oct;5(10):2551-7. doi: 10.1002/j.1460-2075.1986.tb04534.x. PMID: 3780671Free PMC Article
A beta-thalassemia lesion abolishes the same Mst II site as the sickle mutation.
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

Spirometric Changes After Initiation of Hydroxyurea in Children With Sickle Cell Anemia.
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
Nonsurgical Management of Acute Appendicitis in Sickle Cell Disease.
Sahib S, Hanna M, Miller ST
J Pediatr Hematol Oncol 2021 Jan;43(1):28-30. doi: 10.1097/MPH.0000000000001774. PMID: 32134840
Enuresis in sickle cell disease.
Figueroa TE, Benaim E, Griggs ST, Hvizdala EV
J Urol 1995 Jun;153(6):1987-9. PMID: 7752379
Surgery and anesthesia in sickle cell disease. Cooperative Study of Sickle Cell Diseases.
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
Augmentation by erythropoietin of the fetal-hemoglobin response to hydroxyurea in sickle cell disease.
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

Nonsurgical Management of Acute Appendicitis in Sickle Cell Disease.
Sahib S, Hanna M, Miller ST
J Pediatr Hematol Oncol 2021 Jan;43(1):28-30. doi: 10.1097/MPH.0000000000001774. PMID: 32134840
Surgery and anesthesia in sickle cell disease. Cooperative Study of Sickle Cell Diseases.
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
Osteonecrosis of the humeral head in sickle cell disease.
Milner PF, Kraus AP, Sebes JI, Sleeper LA, Dukes KA, Embury SH, Bellevue R, Koshy M, Moohr JW, Smith J
Clin Orthop Relat Res 1993 Apr;(289):136-43. PMID: 8472404
Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia.
Trent RJ, Williams BG, Kearney A, Wilkinson T, Harris PC
Blood 1990 Nov 15;76(10):2132-8. PMID: 2242432
beta zero thalassemia in Sardinia is caused by a nonsense mutation.
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

Health-related quality of life in children and adolescents with sickle cell disease.
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
Surgery and anesthesia in sickle cell disease. Cooperative Study of Sickle Cell Diseases.
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
Sardinian delta beta zero-thalassemia: a further example of a C to T substitution at position -196 of the A gamma globin gene promoter.
Ottolenghi S, Giglioni B, Pulazzini A, Comi P, Camaschella C, Serra A, Guerrasio A, Saglio G
Blood 1987 Apr;69(4):1058-61. PMID: 3828530
Beta zero-thalassemia in association with a gamma-globin gene quadruplication.
Yang KG, Liu JZ, Kutlar F, Kutlar A, Altay C, Gurgey A, Huisman TH
Blood 1986 Dec;68(6):1394-7. PMID: 2430648
beta zero thalassemia in Sardinia is caused by a nonsense mutation.
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
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    • 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
      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, 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 Sheet, 2023
      American College of Medical Genetics ACT SHEET, Sickle Cell Anemia, 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, FS: Hemoglobin S Screening Result, 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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