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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

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
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-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 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
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
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

Factors affecting haemoglobin dynamics in African children with acute uncomplicated Plasmodium falciparum malaria treated with single low-dose primaquine or placebo.
Onyamboko MA, Olupot-Olupot P, Were W, Namayanja C, Onyas P, Titin H, Baseke J, Muhindo R, Kayembe DK, Ndjowo PO, Basara BB, Okalebo CB, Williams TN, Uyoga S, Taya C, Bamisaiye A, Fanello C, Maitland K, Day NPJ, Taylor WRJ, Mukaka M
BMC Med 2023 Oct 20;21(1):397. doi: 10.1186/s12916-023-03105-0. PMID: 37858129Free PMC Article
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
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
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
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
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
Genetic modifiers of the beta-haemoglobinopathies.
Thein SL
Br J Haematol 2008 May;141(3):357-66. doi: 10.1111/j.1365-2141.2008.07084.x. PMID: 18410570
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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