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Alpha trait thalassemia

MedGen UID:
99173
•Concept ID:
C0472762
•
Disease or Syndrome
Synonym: ALPHA-THALASSEMIA TRAIT
SNOMED CT: Alpha thalassemia trait (191187006); Alpha trait thalassemia (191187006)
 
OMIM®: 141850

Definition

A condition in which a person has reduced protein production from two of the four alpha-globin alleles. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlpha trait thalassemia

Professional guidelines

PubMed

Prospective Newborn Screening for Sickle Cell Disease and Other Inherited Blood Disorders in Central Malawi.
Tegha G, Topazian HM, Kamthunzi P, Howard T, Tembo Z, Mvalo T, Chome N, Kumwenda W, Mkochi T, Hernandez A, Ataga KI, Hoffman IF, Ware RE
Int J Public Health 2021;66:629338. Epub 2021 Jun 29 doi: 10.3389/ijph.2021.629338. PMID: 34335138Free PMC Article
Alpha thalassemia genotypes in Kuwait.
Adekile A, Sukumaran J, Thomas D, D'Souza T, Haider M
BMC Med Genet 2020 Aug 24;21(1):170. doi: 10.1186/s12881-020-01105-y. PMID: 32831051Free PMC Article
Potential new approaches to the management of the Hb Bart's hydrops fetalis syndrome: the most severe form of α-thalassemia.
King AJ, Higgs DR
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):353-360. doi: 10.1182/asheducation-2018.1.353. PMID: 30504332Free PMC Article

Recent clinical studies

Etiology

Alpha- and Beta-thalassemia: Rapid Evidence Review.
Baird DC, Batten SH, Sparks SK
Am Fam Physician 2022 Mar 1;105(3):272-280. PMID: 35289581
Thalassemia, a human blood disorder.
Shafique F, Ali S, Almansouri T, Van Eeden F, Shafi N, Khalid M, Khawaja S, Andleeb S, Hassan MU
Braz J Biol 2021;83:e246062. Epub 2021 Sep 3 doi: 10.1590/1519-6984.246062. PMID: 34495151
Human genetics and malaria resistance.
Kariuki SN, Williams TN
Hum Genet 2020 Jun;139(6-7):801-811. Epub 2020 Mar 4 doi: 10.1007/s00439-020-02142-6. PMID: 32130487Free PMC Article
Alpha-thalassaemia.
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article
Alpha and beta thalassemia.
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601

Diagnosis

The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT
Int J Lab Hematol 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. PMID: 36074711Free PMC Article
Alpha- and Beta-thalassemia: Rapid Evidence Review.
Baird DC, Batten SH, Sparks SK
Am Fam Physician 2022 Mar 1;105(3):272-280. PMID: 35289581
Optimal strategies for carrier screening and prenatal diagnosis of α- and β-thalassemia.
Mensah C, Sheth S
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):607-613. doi: 10.1182/hematology.2021000296. PMID: 34889395Free PMC Article
Alpha-thalassaemia.
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article
Alpha and beta thalassemia.
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601

Therapy

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.
Hsu LA, Wu S, Teng MS, Ko YL
Life Sci Alliance 2023 Dec;6(12) Epub 2023 Oct 3 doi: 10.26508/lsa.202302204. PMID: 37788909Free PMC Article
Pregnancy outcomes among women affected with thalassemia traits.
Ruangvutilert P, Phatihattakorn C, Yaiyiam C, Panchalee T
Arch Gynecol Obstet 2023 Feb;307(2):431-438. Epub 2022 Mar 26 doi: 10.1007/s00404-022-06519-y. PMID: 35347380Free PMC Article
α-Thalassemia does not seem to influence erythrocyte deformability in sickle cell trait carriers.
Vayá A, Collado S, Alis R, Vera B, Romagnoli M, Barragán E
Hemoglobin 2014;38(3):165-8. Epub 2014 Mar 7 doi: 10.3109/03630269.2014.888353. PMID: 24601859
Targeted fetal hemoglobin induction for treatment of beta hemoglobinopathies.
Perrine SP, Pace BS, Faller DV
Hematol Oncol Clin North Am 2014 Apr;28(2):233-48. doi: 10.1016/j.hoc.2013.11.009. PMID: 24589264
Thalassemia.
Cohen AR, Galanello R, Pennell DJ, Cunningham MJ, Vichinsky E
Hematology Am Soc Hematol Educ Program 2004:14-34. doi: 10.1182/asheducation-2004.1.14. PMID: 15561674

Prognosis

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.
Hsu LA, Wu S, Teng MS, Ko YL
Life Sci Alliance 2023 Dec;6(12) Epub 2023 Oct 3 doi: 10.26508/lsa.202302204. PMID: 37788909Free PMC Article
Thalassemia, a human blood disorder.
Shafique F, Ali S, Almansouri T, Van Eeden F, Shafi N, Khalid M, Khawaja S, Andleeb S, Hassan MU
Braz J Biol 2021;83:e246062. Epub 2021 Sep 3 doi: 10.1590/1519-6984.246062. PMID: 34495151
The definition and epidemiology of non-transfusion-dependent thalassemia.
Weatherall DJ
Blood Rev 2012 Apr;26 Suppl 1:S3-6. doi: 10.1016/S0268-960X(12)70003-6. PMID: 22631040
Hemoglobin e syndromes.
Vichinsky E
Hematology Am Soc Hematol Educ Program 2007:79-83. doi: 10.1182/asheducation-2007.1.79. PMID: 18024613
Thalassemia.
Cohen AR, Galanello R, Pennell DJ, Cunningham MJ, Vichinsky E
Hematology Am Soc Hematol Educ Program 2004:14-34. doi: 10.1182/asheducation-2004.1.14. PMID: 15561674

Clinical prediction guides

Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study.
Hsu LA, Wu S, Teng MS, Ko YL
Life Sci Alliance 2023 Dec;6(12) Epub 2023 Oct 3 doi: 10.26508/lsa.202302204. PMID: 37788909Free PMC Article
Molecular basis of a high Hb A(2)/Hb Fβ-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction with α-globin gene triplication.
Soontornpanawet C, Singha K, Srivorakun H, Tepakhan W, Fucharoen G, Fucharoen S
PeerJ 2023;11:e15308. Epub 2023 May 3 doi: 10.7717/peerj.15308. PMID: 37159832Free PMC Article
Hemoglobinopathies in India--clinical and laboratory aspects.
Verma IC, Saxena R, Kohli S
Clin Lab Med 2012 Jun;32(2):249-62. doi: 10.1016/j.cll.2012.04.011. PMID: 22727003
Alpha-thalassaemia.
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article
Alpha-thalassaemia.
Bernini LF, Harteveld CL
Baillieres Clin Haematol 1998 Mar;11(1):53-90. doi: 10.1016/s0950-3536(98)80070-x. PMID: 10872473

Recent systematic reviews

Prevalence of Cardiovascular Complications in Individuals with Sickle Cell Anemia and Other Hemoglobinopathies: A Systematic Review.
Lopes A, Dantas MT, Ladeia AMT
Arq Bras Cardiol 2022 Dec;119(6):893-899. doi: 10.36660/abc.20220207. PMID: 36417618Free PMC Article
A systematic review of the literature for severity predictors in children with sickle cell anemia.
Meier ER, Fasano RM, Levett PR
Blood Cells Mol Dis 2017 Jun;65:86-94. Epub 2017 Feb 2 doi: 10.1016/j.bcmd.2017.01.014. PMID: 28185829

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