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Thalassemia minor

MedGen UID:
450549
•Concept ID:
C0869532
•
Disease or Syndrome
Synonym: Beta thalassemia minor
 
Monarch Initiative: MONDO:0044210

Definition

The inheritance of only one mutated beta-globin allele (beta+ or beta0). [from MONDO]

Professional guidelines

PubMed

Major Thalassemia, Screening or Treatment: An Economic Evaluation Study in Iran.
Esmaeilzadeh F, Ahmadi B, Vahedi S, Barzegari S, Rajabi A
Int J Health Policy Manag 2022 Jul 1;11(7):1112-1119. Epub 2021 Feb 3 doi: 10.34172/ijhpm.2021.04. PMID: 33619933Free PMC Article
Thalassemia Minor and Major: Current Management.
Choudhry VP
Indian J Pediatr 2017 Aug;84(8):607-611. Epub 2017 Apr 24 doi: 10.1007/s12098-017-2325-1. PMID: 28435994
Guidelines for diagnosis and management of Beta-thalassemia intermedia.
Karimi M, Cohan N, De Sanctis V, Mallat NS, Taher A
Pediatr Hematol Oncol 2014 Oct;31(7):583-96. doi: 10.3109/08880018.2014.937884. PMID: 25247665

Recent clinical studies

Etiology

Specific refraction-index increments of oxygenated hemoglobin from thalassemia-minor patients are not significantly different than those from healthy individuals.
Huang SS, Lin YH, Wu SJ, Sung KB
Appl Opt 2022 Nov 10;61(32):9334-9341. doi: 10.1364/AO.474991. PMID: 36606879
Beta Thalassemia Minor: Patients Are Not Tired but Depressed and Anxious.
Eren R, Karışmaz A, Aslan C, Doğu MH, Altındal Ş, Yokuş O, Suyanı E
Med Princ Pract 2021;30(1):69-72. Epub 2020 May 27 doi: 10.1159/000508981. PMID: 32460294Free PMC Article
Thalassemia Minor and Major: Current Management.
Choudhry VP
Indian J Pediatr 2017 Aug;84(8):607-611. Epub 2017 Apr 24 doi: 10.1007/s12098-017-2325-1. PMID: 28435994
Beta-thalassemia.
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Hemoglobin electrophoresis and hemoglobinopathies in Kuwait.
Marouf R, D'souza TM, Adekile AD
Med Princ Pract 2002 Jan-Mar;11(1):38-41. doi: 10.1159/000048659. PMID: 12116694

Diagnosis

Specific refraction-index increments of oxygenated hemoglobin from thalassemia-minor patients are not significantly different than those from healthy individuals.
Huang SS, Lin YH, Wu SJ, Sung KB
Appl Opt 2022 Nov 10;61(32):9334-9341. doi: 10.1364/AO.474991. PMID: 36606879
β-Thalassemia intermedia: a comprehensive overview and novel approaches.
Asadov C, Alimirzoeva Z, Mammadova T, Aliyeva G, Gafarova S, Mammadov J
Int J Hematol 2018 Jul;108(1):5-21. Epub 2018 Jan 29 doi: 10.1007/s12185-018-2411-9. PMID: 29380178
Thalassemia Minor and Major: Current Management.
Choudhry VP
Indian J Pediatr 2017 Aug;84(8):607-611. Epub 2017 Apr 24 doi: 10.1007/s12098-017-2325-1. PMID: 28435994
Beta-thalassemia.
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Iron deficiency anemia. How to diagnose and correct.
Farley PC, Foland J
Postgrad Med 1990 Feb 1;87(2):89-93, 96, 101. doi: 10.1080/00325481.1990.11704556. PMID: 2405379

Therapy

β-Thalassemia minor is associated with high rates of worsening anemia in pregnancy.
Langer AL, Goggins BB, Esrick EB, Fell G, Berliner N, Economy KE
Blood 2025 Feb 6;145(6):648-651. doi: 10.1182/blood.2024026736. PMID: 39652827
Septicemic melioidosis complicating undiagnosed chronic kidney disease and beta-thalassemia minor in a Bangladeshi farmer.
Rahim MA, Khan MAY, Chowdhury TA, Ananna MA
Saudi J Kidney Dis Transpl 2020 Nov-Dec;31(6):1411-1414. doi: 10.4103/1319-2442.308358. PMID: 33565456
Guidelines for diagnosis and management of Beta-thalassemia intermedia.
Karimi M, Cohan N, De Sanctis V, Mallat NS, Taher A
Pediatr Hematol Oncol 2014 Oct;31(7):583-96. doi: 10.3109/08880018.2014.937884. PMID: 25247665
Advances in management of thalassemia.
Agarwal MB
Indian J Pediatr 2009 Feb;76(2):177-84. Epub 2009 Mar 28 doi: 10.1007/s12098-009-0048-7. PMID: 19330306
Hemosiderosis in association with thalassemia minor.
Williams CE, Siemsen AW
Arch Intern Med 1968 Apr;121(4):356-60. PMID: 5645711

Prognosis

β-Thalassemia heterozygote state detrimentally affects health expectation.
Graffeo L, Vitrano A, Scondotto S, Dardanoni G, Pollina Addario WS, Giambona A, Sacco M, Di Maggio R, Renda D, Taormina F, Triveri A, Attanasio M, Gluud C, Maggio A
Eur J Intern Med 2018 Aug;54:76-80. Epub 2018 Jun 19 doi: 10.1016/j.ejim.2018.06.009. PMID: 29934240
Identification of IVS-I (-1) (G > C) or Hb Monroe as a report on the beta-globin gene with a beta-thalassemia minor phenotype in south of Iran.
Hamid M, Shariati G, Saberi A, Kaikhaei B, Galehdari H, Mohammadi-Anaei M
Arch Iran Med 2013 Sep;16(9):563-4. PMID: 23981164
Beta-thalassemia.
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Beta-thalassemia minor during pregnancy.
Sheiner E, Levy A, Yerushalmi R, Katz M
Obstet Gynecol 2004 Jun;103(6):1273-7. doi: 10.1097/01.AOG.0000126575.34482.fb. PMID: 15172864
Hemoglobin electrophoresis and hemoglobinopathies in Kuwait.
Marouf R, D'souza TM, Adekile AD
Med Princ Pract 2002 Jan-Mar;11(1):38-41. doi: 10.1159/000048659. PMID: 12116694

Clinical prediction guides

Beta Thalassemia Minor: Patients Are Not Tired but Depressed and Anxious.
Eren R, Karışmaz A, Aslan C, Doğu MH, Altındal Ş, Yokuş O, Suyanı E
Med Princ Pract 2021;30(1):69-72. Epub 2020 May 27 doi: 10.1159/000508981. PMID: 32460294Free PMC Article
Clinical manifestations of chromosome 21 interstitial deletion: report of four cases.
Su PH, Chen JY, Chen SJ, Lin LL
Acta Paediatr Taiwan 2006 Nov-Dec;47(6):303-8. PMID: 17407982
Bipolar affective disorder associated with beta-thalassemia minor.
Harada H, Nakajima T, Inazawa J, Abe T
Biol Psychiatry 1995 Apr 1;37(7):477-9. doi: 10.1016/0006-3223(94)00172-Y. PMID: 7786963
Recurrent episodes of arthritis in thalassemia minor.
Gerster JC, Dardel R, Guggi S
J Rheumatol 1984 Jun;11(3):352-4. PMID: 6610757
Thalassemia (Mediterranean disease) occurring in Filipinos and Chinese.
NILSSON JM, MILLS H, MINERS GW
Calif Med 1951 Mar;74(3):195-7. PMID: 14812356Free PMC Article

Recent systematic reviews

Serum lipid profile abnormalities among beta-thalassemia patients: a systematic review and meta-analysis.
Mohamed SOO, Mohamed AEA, Salih MSK, Salih KSK, Abdelrahman ASEE, Abdelgadir AGA, Ahmedkaroum MGA, Abdalla GA, Fadil HAM, Abdelrahman MAM, Salih NSA
Lipids Health Dis 2024 Nov 25;23(1):388. doi: 10.1186/s12944-024-02377-6. PMID: 39587544Free PMC Article

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