Alpha Thalassemia Treatment & Management
- Author: Samer A Bleibel, MD; Chief Editor: Emmanuel C Besa, MD more...
Medical Care
- Avoid iron supplementation as it contributes to iron overload and does not affect hematologic values or cell morphology.
- Administer folate supplementation to provide adequate amounts of the vitamin for increased utilization resulting from the hemolytic process and high bone marrow turnover rate.
- Provide prompt attention to infection, especially in children who have had splenectomy, and administer appropriate vaccines to these individuals.
- Administer blood transfusions only if necessary.
- If chronic transfusion is needed (hemoglobin H disease), iron chelation therapy should be considered to avoid iron overloading.
Surgical Care
- Hemoglobin H disease
- Perform splenectomy if transfusion requirements are increasing.
- Surgical or orthodontic correction may be necessary to correct skeletal deformities of the skull and maxilla caused by erythroid hyperplasia.
Muncie HL Jr, Campbell J. Alpha and beta thalassemia. Am Fam Physician. Aug 15 2009;80(4):339-44. [Medline].
Higgs DR, Weatherall DJ. The alpha thalassaemias. Cell Mol Life Sci. Apr 2009;66(7):1154-62. [Medline].
Dwinnell SJ, Coad S, Butler B, Albersheim S, Wadsworth LD, Wu JK, et al. In Utero diagnosis and management of a fetus with homozygous a-Thalassemia in the second trimester: a case report and literature review. J Pediatr Hematol Oncol. Dec 2011;33(8):e358-60. [Medline].
Sirichotiyakul S, Charoenkwan P, Sanguansermsri T. Prenatal diagnosis of homozygous alpha-thalassemia-1 by cell-free fetal DNA in maternal plasma. Prenat Diagn. Oct 26 2011;[Medline].
Bouva MJ, Sollaino C, Perseu L, Galanello R, Giordano PC, Harteveld CL, et al. Relationship between neonatal screening results by HPLC and the number of a-thalassaemia gene mutations; consequences for the cut-off value. J Med Screen. 2011;18(4):182-6. [Medline].
Baysal E. a-Thalassemia syndromes in the United Arab Emirates. Hemoglobin. 2011;35(5-6):574-80. [Medline].
Singer ST. Variable clinical phenotypes of alpha-thalassemia syndromes. ScientificWorldJournal. Jul 13 2009;9:615-25. [Medline].
Haas PS, Roy NB, Gibbons RJ, Deville MA, Fisher C, Schwabe M, et al. The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS). Br J Haematol. Feb 2009;144(4):538-45. [Medline].
Giambona A, Passarello C, Renda D, Maggio A. The significance of the hemoglobin A(2) value in screening for hemoglobinopathies. Clin Biochem. Jul 8 2009;[Medline].
Liu J, Tang N, Liu Q, Wang L, Han H, Cai R, et al. Improvement in the Detection of alpha0- and Deletional alpha-Thalassemia by Real-Time PCR Combined with Dissociation Curve Analysis. Acta Haematol. Aug 15 2009;122(1):17-22. [Medline].
Chen YL, Shih CJ, Ferrance J, Chang YS, Chang JG, Wu SM. Genotyping of alpha-thalassemia deletions using multiplex polymerase chain reactions and gold nanoparticle-filled capillary electrophoresis. J Chromatogr A. Feb 13 2009;1216(7):1206-12. [Medline].
Ribeiro DM, Sonati MF. Regulation of human alpha-globin gene expression and alpha-thalassemia. Genet Mol Res. Oct 14 2008;7(4):1045-53. [Medline].
Arcasoy MO, Gallagher PG. Hematologic disorders and nonimmune hydrops fetalis. Semin Perinatol. Dec 1995;19(6):502-15. [Medline].
Benz EJ. Clinical Manifestations of the thalassemias. UpToDate. 2006.
Bernini LF, Harteveld CL. Alpha-thalassaemia. Baillieres Clin Haematol. Mar 1998;11(1):53-90. [Medline].
Bunn HF, Forget BG. Hemoglobin. In: Molecular, Genetic and Clinical Aspects. Philadelphia, Pa: WB Saunders; 1986.
Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. Feb 1 2003;101(3):791-800. [Medline].
Chui DH, Waye JS. Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. Blood. Apr 1 1998;91(7):2213-22. [Medline].
Clegg JB, Weatherall DJ. Thalassemia and malaria: new insights into an old problem. Proc Assoc Am Physicians. Jul-Aug 1999;111(4):278-82. [Medline].
Higgs DR. Hamm-Wasserman LectureGene Regulation in Hematopoiesis: New Lessons from Thalassemia. Hematology. 2004.
Kazazian HH Jr, Dowling CE, Hurwitz RL, Coleman M, Stopeck A, Adams JG 3rd. Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene. Blood. Jun 1 1992;79(11):3014-8. [Medline].
Lee R, Foerster J, Lukens J. The thalassemias and related disorders:. In: quantitative disorders of hemoglobin synthesis. In: Wintrobe's Clinical Hematology. Philadelphia, Pa: Lippincott, Williams, and Wilkins; 1999:1405-1448.
Schell T, Kulozik AE, Hentze MW. Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway. Genome Biol. 2002;3(3):REVIEWS1006. [Medline].
Schrier SL. Pathophysiology of alpha thalassemia. UpToDate. 2006.
Schrier SL. Thalassemia: pathophysiology of red cell changes. Annu Rev Med. 1994;45:211-8. [Medline].
Sgourou A, Routledge S, Antoniou M, Papachatzopoulou A, Psiouri L, Athanassiadou A. Thalassaemia mutations within the 5'UTR of the human beta-globin gene disrupt transcription. Br J Haematol. Mar 2004;124(6):828-35. [Medline].
Steensma DP, Gibbons RJ, Higgs DR. Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. Blood. Jan 15 2005;105(2):443-52. [Medline].
Vichinsky EP, MacKlin EA, Waye JS, Lorey F, Olivieri NF. Changes in the epidemiology of thalassemia in North America: a new minority disease. Pediatrics. Dec 2005;116(6):e818-25. [Medline].
Weatherall D. The molecular basis for phenotypic variability of the common thalassaemias. Mol Med Today. Apr 1995;1(1):15-20. [Medline].
Weatherall DJ, Clegg JB. The Thalassaemia Syndromes Fourth Edition. 2004.
Weatherall, DJ, Clegg, JB, Higgs, DR, et al. The hemoglobinopathies. In:. In: Scriver, CR, Beaudet, AL, Sly, WS, Valle, D (Eds). The Metabolic and Molecular Bases of Inherited Disease. 7th edition. New York: McGraw-Hill; 1995:p.3417.

