Living reference work entry


The term thalassemia was first applied to the anemias encountered frequently in people of the Italian and Greek coasts and nearby islands. The term now refers to a group of inherited disorders of globin chain synthesis. Thalassemia comprises of a group of hemoglobinopathies, which are classified according to the specific globin chain (α or β) whose synthesis is impaired. Thus, α-thalassemia and β-thalassemia are depression of synthesis of the respective chain.


Depression Osteoporosis Electrophoresis Anemia Folic Acid 


  1. Cao, A., & Galantello, R. (2010). Beta-thalassemia. Genetics in Medicine, 12, 61–76.CrossRefPubMedGoogle Scholar
  2. Cao, A., & Kan, Y. W. (2013). The prevention of thalassemia. Cold Spring Harbor Perspectives in Medicine, 3, 1–15.CrossRefGoogle Scholar
  3. Cao, A., Rosatelli, M. C., Monni, G., et al. (2002). Screening for thalassemia: A model of success. Obstetrics and Gynecology Clinics of North America, 29, 305–328.CrossRefPubMedGoogle Scholar
  4. Carr, S., Rubin, L., et al. (1995). Intrauterine therapy for homozygous alpha-thalassemia. Obstetrics and Gynecology, 85, 876.CrossRefPubMedGoogle Scholar
  5. Chen, H. (1992). Genetic testing & counseling for hemoglobinopathies. In H. Chen (Ed.), Ohio Department of Health the Resource Manual for hemoglobinopathies. An essential guide for health professionals (pp. 97–107). Columbus: Advisory Council on Newborn Screening for Hemoglobinopathies.Google Scholar
  6. Cheung, M.-C., Goldberg, J., & Kan, Y. (1996). Prenatal diagnosis of sickle cell anaemia and thalassemia by analysis of fetal cells in maternal blood. Nature Genetics, 14, 264.CrossRefPubMedGoogle Scholar
  7. Dozy, A. M., Forman, E. N., Abuelo, D. N., et al. (1979). Prenatal diagnosis of homozygous alpha thalassemia. Journal of the American Medical Association, 241, 1610–1612.CrossRefPubMedGoogle Scholar
  8. Dumars, K. W., Boehm, G., Eckman, J. R., et al. (1996). Practical guide to the diagnosis of thalassemia. American Journal of Medical Genetics, 62, 29–37.CrossRefPubMedGoogle Scholar
  9. Finotti, A., Breda, L., Lederer, C. W., et al. (2015). Recent trends in the gene therapy of β-thalassemia. Journal of Blood Medicine, 6, 69–85.PubMedPubMedCentralGoogle Scholar
  10. Galanello, R., & Cao, A. (2011). Alpha-thalassemia. Genetics in Medicine, 13, 83–88.CrossRefPubMedGoogle Scholar
  11. Galanello, R., & Origa, R. (2010). Beta-thalassemia. Orphanet Journal of Rare Diseases, 6, 11–40.CrossRefGoogle Scholar
  12. Ghosh, A., Tang, M. H. Y., Liang, S. T., et al. (1987). Ultrasound evaluation of pregnancies at risk for homozygous α-thalassaemia-1. Prenatal Diagnosis, 7, 307–313.CrossRefPubMedGoogle Scholar
  13. Ghosh, A., Tang, M., Leung, M. P., et al. (1994). Cardiac blood flow studies in fetuses with haemoglobin Bart’s disease. Prenatal Diagnosis, 14, 627–632.CrossRefPubMedGoogle Scholar
  14. Giardini, C., & Lucarelli, G. (1999). Bone marrow transplantation for beta-thalassemia. Hematology/Oncology Clinics of North America, 13, 1059–1064.CrossRefPubMedGoogle Scholar
  15. Haddad, A., Tyan, P., Radwan, A., et al. (2014). β-thalassemia intermedia: a bird’s-eye view. Turkish Journal of Hematology, 31, 5–16.CrossRefPubMedPubMedCentralGoogle Scholar
  16. Harteveld, C. L., & Higgs, D. R. (2010). Alpha-thalassaemia. Orphanet Journal of Rare Diseases, 5, 13–65.CrossRefPubMedPubMedCentralGoogle Scholar
  17. Javid, B., & Said-Al-Naief, N. (2015). Craniofacial manifestations of b-thalassemia major. Oral and Maxillofacial Pathology, 119, e33–e40.Google Scholar
  18. Kelly, N. (2012). Thalassemia. Pediatrics in Review, 33, 434–435.CrossRefPubMedGoogle Scholar
  19. Kelly, P., Kurtzberg, J., Vichinsky, E., et al. (1997). Umbilical cord blood stem cells: Application for the treatment of patients with hemoblobinopathies. Journal of Pediatrics, 130, 695–703.CrossRefPubMedGoogle Scholar
  20. Kokkali, G., Traeger-Synodinos, J., Vrettou, C., et al. (2007). Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of β-thalassaemia: A pilot study. Human Reproduction, 22, 1443–1449.CrossRefPubMedGoogle Scholar
  21. Kukreja, A., Wadhwa, N., & Tiwari, A. (2013). Therapeutic role of natural agents in beta-thalassemia: A review. Journal of Pharmacy Research, 6, 954–959.CrossRefGoogle Scholar
  22. Kuliev, A., Rechitsky, S., Verlinsky, O., et al. (1998). Preimplantation diagnosis of thalassemias. Journal of Assisted Reproduction and Genetics, 15, 219–225.CrossRefPubMedPubMedCentralGoogle Scholar
  23. Kuliev, A., Pakhalchuk, T., Verlinsky, O., et al. (2011). Preimplantation genetic diagnosis for hemoglobinopathies. Hemoglobin, 31, 273–277.Google Scholar
  24. Lam, Y. H., Ghosh, A., Tang, M. H., et al. (1997). Second-trimester hydrops fetalis in pregnancies affected by homozygous alpha-thalassaemia-1. Prenatal Diagnosis, 17, 267–269.CrossRefPubMedGoogle Scholar
  25. Lam, Y. H., Tang, M. H. Y., Lee, C. P., et al. (1999). Cardiac blood flow studies in fetuses with homozygous α-thalassemia-1 at 12–13 weeks of gestation. Ultrasound in Obstetrics and Gynecology, 13, 48–51.CrossRefPubMedGoogle Scholar
  26. Li, X., Zhou, Q., Zhang, M., et al. (2015). Sonographic markers of fetal α-thalassemia major. Journal of Ultrasound in Medicine, 34, 197–206.CrossRefPubMedGoogle Scholar
  27. Locatelli, F., Rocha, V., Reed, W., et al. (2003). Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease. Blood, 101, 2137–2143.CrossRefPubMedGoogle Scholar
  28. Lucarelli, G., Giardini, C., & Baronciani, D. (1995). Bone marrow transplantation in thalassemia. Seminars in Hematology, 32, 297–303.PubMedGoogle Scholar
  29. Nemtsas, P., Arnaotoglou, M., Perifanis, V., et al. (2015). Neurological complications of beta-thalassemia. Annals of Hematology, 94, 1261–1265.CrossRefPubMedGoogle Scholar
  30. Origa, R. (2015). Beta-thalassemia. GeneReviews. Updated May 14, 2015. Available at:
  31. Origa, R., Moi, P., Galanello, R., et al. (2013). Alpha-thalassemia. GeneReviews. Updated November 21, 2013. Available at:
  32. Picklesimer, A. H., Oepkes, D., Moise, K. J. Jr, et al. (2007). Determinants of the middle cerebral artery peak systolic velocity in the human fetus. American Journal or Obstetrics and Gynecology, 197, 526.e1–526.e4.Google Scholar
  33. Rucknagel, D. L. (1992). Microcytosis and the thalassemias. In H. Chen (Ed.), Ohio Department of Health the Resource Manual for hemoglobinopathies. An essential guide for health professionals (pp. 15–18). Columbus: Advisory Council on Newborn Screening for Hemoglobinopathies.Google Scholar
  34. Segel, G. B., Hirsh, M. G., & Feig, S. A. (2002). Managing anemia in pediatric office practice: Part 1. Pediatrics in Review, 23, 75–84.CrossRefPubMedGoogle Scholar
  35. Singer, S. T., Styles, L., Bojanowski, J., et al. (2000). Changing outcome of homozygous alpha-thalassemia: Cautious optimism. Journal of Pediatric Hematology/Oncology, 22, 539–542.CrossRefPubMedGoogle Scholar
  36. Taher, A. T., Musallam, K. M., Karimi, M., et al. (2012). Contemporary approaches to treatment of beta-thalassemia intermedia. Blood Reviews, 26S, S24–S27.CrossRefGoogle Scholar
  37. Thein, S. L. (2013). The molecular basis of β-thalassemia. Cold Spring Harbor Perspectives in Medicine, 3, 1–24.CrossRefGoogle Scholar
  38. Tongsong, T., Wanapirak, C., Srisomboon, J., et al. (1996). Antenatal sonographic features of 100 alpha-thalassemia hydrops fetalis fetuses. Journal of Clinical Ultrasound, 24, 73–77.CrossRefPubMedGoogle Scholar
  39. Verlinsky, Y., Ginsberg, N., Lifchez, A., et al. (1990). Analysis of the first polar body: Preconception genetic diagnosis. Human Reproduction, 5, 826–829.PubMedGoogle Scholar
  40. Vichinsky, E. P. (2009). Alpha thalassemia major-new mutations, intrauterine management, and outcomes. American Society of Hematology Education Program, 1, 35–41.Google Scholar
  41. Vichinsky, E. (2010). Complexity of alpha thalassemia: Growing health problem with new approaches to screening, diagnosis, and therapy. Annals of the New York Academy of Sciences, 1202, 180–187.CrossRefPubMedGoogle Scholar
  42. Vichinsky, E. P. (2013). Clinical manifestations of α-thalassemia. Cold Spring Harbor Perspectives in Medicine, 3, 1–10.CrossRefGoogle Scholar
  43. Weisz, B., Rosenbaum, O., Chayen, B., et al. (2009). Outcome of severely anaemic fetuses treated by intrauterine transfusions. Archives of Disease in Childhood. Fetal and Neonatal Edition, 94, F201–F204.CrossRefPubMedGoogle Scholar
  44. Yaish, H. M. (2010). Medscape reference. Updated April 30, 2010. Available at:
  45. Zachaki, S., Vrettou, C., Destouni, A., et al. (2011). Novel and known microsatellite markers within the β-globin cluster to support robust preimplantation genetic diagnosis of β-thalassemia and sickle cell syndromes. Hemoglobin, 35, 56–66.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media LLC 2016

Authors and Affiliations

  1. 1.Medical geneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

Personalised recommendations