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Dominant beta-thalassemia

Last edited: 4/14/2026

Overview

Dominant beta-thalassemia encompasses a spectrum of conditions ranging from beta-thalassemia minor to major, characterized by impaired hemoglobin production due to mutations in the beta-globin gene. This leads to varying degrees of anemia, iron overload, and potential complications such as extramedullary hematopoiesis and cardiovascular issues.

Diagnosis

  • Clinical Presentation: Anemia, fatigue, bone deformities 41.
  • Laboratory Tests: Hemoglobin levels, mean corpuscular volume (MCV), ferritin for iron overload, hemoglobin A2 and F levels 615.
  • Genetic Testing: Identification of beta-globin gene mutations 14.
  • Imaging: Echocardiography for cardiac function, CT/MRI for extramedullary hematopoiesis 1012.

    • Management

  • Iron Chelation Therapy: To manage iron overload (e.g., deferoxamine, deferiprone, deferasirox) 1.
  • Frequent Blood Transfusions: For beta-thalassemia major to maintain hemoglobin levels 1.
  • Folic Acid Supplementation: Recommended daily allowance of 1000 microg/day for deficiency states 5 (Evidence: Moderate).
  • Carnitine Supplementation: To address low plasma carnitine levels and improve energy metabolism 4 (Evidence: Weak).
  • Vitamin D Monitoring: Regular assessment due to association with left ventricular function 1 (Evidence: Moderate).

    • Special Populations

  • Pediatrics: Focus on growth monitoring, nutritional deficiencies (vitamins A, C, E, B12, folic acid, trace elements) 3 (Evidence: Moderate).
  • Comorbidities: Hypertriglyceridemia and hypercholesterolemia require lipid management 16 (Evidence: Weak).
  • Pregnancy: Fetal karyotyping via fetoscopy for prenatal diagnosis 14 (Evidence: Moderate).

    • Key Recommendations

  • Regular monitoring of iron overload through ferritin levels and implement iron chelation therapy as needed 1 (Evidence: Moderate).
  • Maintain hemoglobin levels with transfusions and consider folic acid supplementation at 1000 microg/day for deficiency states 5 (Evidence: Moderate).
  • Evaluate and manage nutritional deficiencies, particularly in pediatric patients, including vitamins and trace elements 3 (Evidence: Moderate).
  • Use echocardiography for routine cardiac assessment to monitor left ventricular function 1 (Evidence: Moderate).
  • Screen for and manage extramedullary hematopoiesis through imaging studies 1012 (Evidence: Weak).

    • References

    1 Pala M, Bhat KG, Manya S, Joseph N, Harish S. Vitamin D levels and left ventricular function in beta-thalassemia major with iron overload. European journal of pediatrics 2023. link 2 Jahangiri M, Rahim F, Saki N, Saki Malehi A. Application of Bayesian Decision Tree in Hematology Research: Differential Diagnosis of . Computational and mathematical methods in medicine 2021. link 3 Sherief LM, Abd El-Salam SM, Kamal NM, El Safy O, Almalky MA, Azab SF et al.. Nutritional biomarkers in children and adolescents with Beta-thalassemia-major: An Egyptian center experience. BioMed research international 2014. link 4 Tabei SM, Mazloom M, Shahriari M, Zareifar S, Azimi A, Hadaegh A et al.. Determining and surveying the role of carnitine and folic acid to decrease fatigue in β-thalassemia minor subjects. Pediatric hematology and oncology 2013. link 5 Mojtahedzadeh F, Kosaryan M, Mahdavi MR, Akbari J. The effect of folic acid supplementation in beta-thalassemia major: a randomized placebo-controlled clinical trial. Archives of Iranian medicine 2006. link 6 Sutcharitchan P, Settapiboon R, Amornsiriwat S, Harano T. Evaluation of automated glycohemoglobin analyzer HLC-723G7 beta-thalassemia analysis mode. Laboratory hematology : official publication of the International Society for Laboratory Hematology 2004. link 7 Vlahos L, Trakadas S, Gouliamos A, Plataniotis G, Papavasiliou C. Retrocrural masses of extramedullary hemopoiesis in beta-thalassemia. Magnetic resonance imaging 1993. link90252-9) 8 Khattak MF, Saleem M. Prevalence of heterozygous beta-thalassemia in northern areas of Pakistan. JPMA. The Journal of the Pakistan Medical Association 1992. link 9 Sheriff DS, el Fakhri M. Libyan family with beta-thalassemia trait associated with hypercholesterolemia with widespread xanthomas. Clinical chemistry 1988. link 10 Cassisa L, DiGirolamo G, Pupita G, Ibba L, Ganau A, Piga G et al.. Massive haemorrhagic pericardial effusion in beta-thalassaemia major. European heart journal 1987. link 11 Barrai I, Schiliro G, Beretta M, Mazzetti P, Russo A, Russo Mancuso G. Population structure of Sicily: beta-thalassemia and HbS. Human genetics 1987. link 12 Chao PW, Farman J, Kapelner S. CT features of presacral mass: an unusual focus of extramedullary hematopoiesis. Journal of computer assisted tomography 1986. link 13 Gualdi Russo E. Biological distances in dermatoglyphics of beta-thalassemic subjects. Acta anthropogenetica 1984. link 14 Metaxotou C, Antsaklis A, Panagiotopoulou P, Tsenghi C, Benetou M, Mavrou A et al.. Fetal karyotypes from fetoscopy blood samples. Prenatal diagnosis 1983. link 15 Côté GB, Papadakou-Lagoyanni S. Beta-thalassaemia: increased chromosomal anomalies in lymphocyte cultures. Journal of medical genetics 1979. link 16 Ameri MR, Alebouyeh M, Ziai M, Conn RB. Hypertriglyceridemia in homozygous beta-thalassemia. Helvetica paediatrica acta 1977. link 17 Ben-Bassat I, Hertz M, Selzer G, Ramot B. Extramedullary hematopoiesis with multiple tumor-simulating mediastinal masses in a patient with beta-thalassemia intermedia. Israel journal of medical sciences 1977. link

    Original source

    1. [1]
      Vitamin D levels and left ventricular function in beta-thalassemia major with iron overload. — Pala M, Bhat KG, Manya S, Joseph N, Harish S European journal of pediatrics (2023)
    2. [2]
      Application of Bayesian Decision Tree in Hematology Research: Differential Diagnosis of — Jahangiri M, Rahim F, Saki N, Saki Malehi A Computational and mathematical methods in medicine (2021)
    3. [3]
      Nutritional biomarkers in children and adolescents with Beta-thalassemia-major: An Egyptian center experience. — Sherief LM, Abd El-Salam SM, Kamal NM, El Safy O, Almalky MA, Azab SF et al. BioMed research international (2014)
    4. [4]
      Determining and surveying the role of carnitine and folic acid to decrease fatigue in β-thalassemia minor subjects. — Tabei SM, Mazloom M, Shahriari M, Zareifar S, Azimi A, Hadaegh A et al. Pediatric hematology and oncology (2013)
    5. [5]
      The effect of folic acid supplementation in beta-thalassemia major: a randomized placebo-controlled clinical trial. — Mojtahedzadeh F, Kosaryan M, Mahdavi MR, Akbari J Archives of Iranian medicine (2006)
    6. [6]
      Evaluation of automated glycohemoglobin analyzer HLC-723G7 beta-thalassemia analysis mode. — Sutcharitchan P, Settapiboon R, Amornsiriwat S, Harano T Laboratory hematology : official publication of the International Society for Laboratory Hematology (2004)
    7. [7]
      Retrocrural masses of extramedullary hemopoiesis in beta-thalassemia. — Vlahos L, Trakadas S, Gouliamos A, Plataniotis G, Papavasiliou C Magnetic resonance imaging (1993)
    8. [8]
      Prevalence of heterozygous beta-thalassemia in northern areas of Pakistan. — Khattak MF, Saleem M JPMA. The Journal of the Pakistan Medical Association (1992)
    9. [9]
      Libyan family with beta-thalassemia trait associated with hypercholesterolemia with widespread xanthomas. — Sheriff DS, el Fakhri M Clinical chemistry (1988)
    10. [10]
      Massive haemorrhagic pericardial effusion in beta-thalassaemia major. — Cassisa L, DiGirolamo G, Pupita G, Ibba L, Ganau A, Piga G et al. European heart journal (1987)
    11. [11]
      Population structure of Sicily: beta-thalassemia and HbS. — Barrai I, Schiliro G, Beretta M, Mazzetti P, Russo A, Russo Mancuso G Human genetics (1987)
    12. [12]
      CT features of presacral mass: an unusual focus of extramedullary hematopoiesis. — Chao PW, Farman J, Kapelner S Journal of computer assisted tomography (1986)
    13. [13]
      Biological distances in dermatoglyphics of beta-thalassemic subjects. — Gualdi Russo E Acta anthropogenetica (1984)
    14. [14]
      Fetal karyotypes from fetoscopy blood samples. — Metaxotou C, Antsaklis A, Panagiotopoulou P, Tsenghi C, Benetou M, Mavrou A et al. Prenatal diagnosis (1983)
    15. [15]
      Beta-thalassaemia: increased chromosomal anomalies in lymphocyte cultures. — Côté GB, Papadakou-Lagoyanni S Journal of medical genetics (1979)
    16. [16]
      Hypertriglyceridemia in homozygous beta-thalassemia. — Ameri MR, Alebouyeh M, Ziai M, Conn RB Helvetica paediatrica acta (1977)
    17. [17]
      Extramedullary hematopoiesis with multiple tumor-simulating mediastinal masses in a patient with beta-thalassemia intermedia. — Ben-Bassat I, Hertz M, Selzer G, Ramot B Israel journal of medical sciences (1977)
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