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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

Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening.
Zou J, Huang S, Xi H, Huang C, Zou L, Qiu L, Nie X, Zhou J, Zhuang Y, Chen Y, Xie L, Liu N, Lin J
Int J Lab Hematol 2022 Feb;44(1):223-228. Epub 2021 Sep 10 doi: 10.1111/ijlh.13687. PMID: 34505740
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

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
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
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
Alpha and beta thalassemia.
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601
Alpha-thalassaemia.
Leung WC, Leung KY, Lau ET, Tang MH, Chan V
Semin Fetal Neonatal Med 2008 Aug;13(4):215-22. Epub 2008 Apr 10 doi: 10.1016/j.siny.2008.02.006. PMID: 18406222

Diagnosis

The Clinical Phenotypes of Alpha Thalassemia.
Lal A, Vichinsky E
Hematol Oncol Clin North Am 2023 Apr;37(2):327-339. doi: 10.1016/j.hoc.2022.12.004. PMID: 36907606
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 and beta thalassemia.
Muncie HL Jr, Campbell J
Am Fam Physician 2009 Aug 15;80(4):339-44. PMID: 19678601
Alpha-thalassaemia.
Leung WC, Leung KY, Lau ET, Tang MH, Chan V
Semin Fetal Neonatal Med 2008 Aug;13(4):215-22. Epub 2008 Apr 10 doi: 10.1016/j.siny.2008.02.006. PMID: 18406222

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
Alectinib-induced red cell morphological changes in a patient with underlying α-thalassaemia trait.
Li THS, Chik YKJ, Wong WS
Int J Lab Hematol 2022 Feb;44(1):65-66. Epub 2021 Oct 13 doi: 10.1111/ijlh.13730. PMID: 34644447
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
The impact of malaria-protective red blood cell polymorphisms on parasite biomass in children with severe Plasmodium falciparum malaria.
Uyoga S, Watson JA, Wanjiku P, Rop JC, Makale J, Macharia AW, Kariuki SN, Nyutu GM, Shebe M, Mosobo M, Mturi N, Rockett KA, Woodrow CJ, Dondorp AM, Maitland K, White NJ, Williams TN
Nat Commun 2022 Jun 8;13(1):3307. doi: 10.1038/s41467-022-30990-5. PMID: 35676275Free 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
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

Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.
Loh JB, Ross JM, Musallam KM, Kuo KHM
Ann Hematol 2024 Nov;103(11):4437-4447. Epub 2024 Sep 24 doi: 10.1007/s00277-024-06007-0. PMID: 39316111
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
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
Endometrial extramedullary haemopoiesis.
Creagh TM, Bain BJ, Evans DJ, Reid CD, Young RH, Flanagan AM
J Pathol 1995 May;176(1):99-104. doi: 10.1002/path.1711760114. PMID: 7616362

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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