Alpha Thalassemia Differential Diagnoses

  • Author: Samer A Bleibel, MD; Chief Editor: Emmanuel C Besa, MD   more...
 
Updated: Jan 10, 2012
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Samer A Bleibel, MD  Staff Physician, Department of Internal Medicine, Wayne State University School of Medicine, St John's Hospital and Medical Centers

Samer A Bleibel, MD is a member of the following medical societies: American College of Physicians

Disclosure: Nothing to disclose.

Coauthor(s)

Robert J Leonard, MD  Clinical Assistant Professor, Department of Medicine, Wayne State University School of Medicine

Disclosure: Nothing to disclose.

Jennifer L Jones-Crawford, MD  Fellow, Department of Hematology/Oncology, Medical College of Georgia

Jennifer L Jones-Crawford, MD is a member of the following medical societies: American College of Physicians and American Society of Hematology

Disclosure: Nothing to disclose.

Abdullah Kutlar, MD  Director of Sickle Cell Center, Fellowship Program Director, Professor, Department of Internal Medicine, Section of Hematology and Oncology, Medical College of Georgia

Abdullah Kutlar, MD is a member of the following medical societies: American Society of Hematology

Disclosure: Nothing to disclose.

Linda K Hendricks, MD  Assistant Professor, Department of Internal Medicine, Section of Hematology and Oncology, Mercer University School of Medicine

Linda K Hendricks, MD is a member of the following medical societies: American Society of Hematology

Disclosure: Nothing to disclose.

Specialty Editor Board

Wadie F Bahou, MD  Chief, Division of Hematology, Hematology/Oncology Fellowship Director, Professor, Department of Internal Medicine, State University of New York at Stony Brook

Wadie F Bahou, MD is a member of the following medical societies: American Society of Hematology

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Marcel E Conrad, MD  Distinguished Professor of Medicine (Retired), University of South Alabama College of Medicine

Marcel E Conrad, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American Association of Blood Banks, American Chemical Society, American College of Physicians, American Physiological Society, American Society for Clinical Investigation, American Society of Hematology, Association of American Physicians, Association of Military Surgeons of the US, International Society of Hematology, Society for Experimental Biology and Medicine, and Southwest Oncology Group

Disclosure: No financial interests None None

Rajalaxmi McKenna, MD, FACP  Southwest Medical Consultants, SC, Department of Medicine, Good Samaritan Hospital, Advocate Health Systems

Rajalaxmi McKenna, MD, FACP is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology, and International Society on Thrombosis and Haemostasis

Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD  Professor, Department of Medicine, Division of Hematologic Malignancies, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Clinical Oncology, American Society of Hematology, and New York Academy of Sciences

Disclosure: Nothing to disclose.

References

  1. Muncie HL Jr, Campbell J. Alpha and beta thalassemia. Am Fam Physician. Aug 15 2009;80(4):339-44. [Medline].

  2. Higgs DR, Weatherall DJ. The alpha thalassaemias. Cell Mol Life Sci. Apr 2009;66(7):1154-62. [Medline].

  3. 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].

  4. 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].

  5. 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].

  6. Baysal E. a-Thalassemia syndromes in the United Arab Emirates. Hemoglobin. 2011;35(5-6):574-80. [Medline].

  7. Singer ST. Variable clinical phenotypes of alpha-thalassemia syndromes. ScientificWorldJournal. Jul 13 2009;9:615-25. [Medline].

  8. 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].

  9. 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].

  10. 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].

  11. 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].

  12. 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].

  13. Arcasoy MO, Gallagher PG. Hematologic disorders and nonimmune hydrops fetalis. Semin Perinatol. Dec 1995;19(6):502-15. [Medline].

  14. Benz EJ. Clinical Manifestations of the thalassemias. UpToDate. 2006.

  15. Bernini LF, Harteveld CL. Alpha-thalassaemia. Baillieres Clin Haematol. Mar 1998;11(1):53-90. [Medline].

  16. Bunn HF, Forget BG. Hemoglobin. In: Molecular, Genetic and Clinical Aspects. Philadelphia, Pa: WB Saunders; 1986.

  17. Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. Feb 1 2003;101(3):791-800. [Medline].

  18. Chui DH, Waye JS. Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. Blood. Apr 1 1998;91(7):2213-22. [Medline].

  19. 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].

  20. Higgs DR. Hamm-Wasserman LectureGene Regulation in Hematopoiesis: New Lessons from Thalassemia. Hematology. 2004.

  21. 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].

  22. 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.

  23. 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].

  24. Schrier SL. Pathophysiology of alpha thalassemia. UpToDate. 2006.

  25. Schrier SL. Thalassemia: pathophysiology of red cell changes. Annu Rev Med. 1994;45:211-8. [Medline].

  26. 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].

  27. 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].

  28. 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].

  29. Weatherall D. The molecular basis for phenotypic variability of the common thalassaemias. Mol Med Today. Apr 1995;1(1):15-20. [Medline].

  30. Weatherall DJ, Clegg JB. The Thalassaemia Syndromes Fourth Edition. 2004.

  31. 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.

 
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Peripheral smear from a patient with hemoglobin H disease showing target cells, microcytosis, hypochromia, and anisopoikilocytosis. Morphological abnormalities are similar to those observed in beta thalassemia. In alpha2 thalassemia (silent trait), only mild microcytosis is observed.
 
 
 
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