Alpha Thalassemia Differential Diagnoses

  • Author: Alexandra C Cheerva, MD, MS; Chief Editor: Max J Coppes, MD, PhD, MBA   more...
 
Updated: Oct 5, 2011
 
 

Diagnostic Considerations

During pregnancy, iron and folic acid deficiencies can alter the mean corpuscular volume (MCV). As a result, thalassemia may be difficult to diagnose or exclude during pregnancy. If a strong suspicion exists and if a definitive answer is required, polymerase chain reaction (PCR) evaluation should be performed for globin-chain analysis.

Pregnant women with hemoglobin H (HbH) disease require special care because women with severe anemia may have serious health problems during their pregnancy, and these problems may adversely affect the health of their fetuses. The incidence of low birth weight is also high in women with HbH disease and severe anemia.[13, 14]

Other problems to be considered include the following:

  • Autoimmune hemolytic anemia
  • Hemoglobin S thalassemia syndrome
  • Hemoglobin E thalassemia syndrome
  • Hemoglobinopathies
  • Hereditary persistence of hemoglobin F (fetal hemoglobin)
  • High hemoglobin F syndromes
  • Nonimmune hemolytic anemia
  • Sideroblastic anemia

Differential Diagnoses

Proceed to Workup
 
 
Contributor Information and Disclosures
Author

Alexandra C Cheerva, MD, MS  Associate Professor of Pediatrics, Division of Hematology/Oncology, Director of Pediatric Blood and Marrow Transplantation, University of Louisville School of Medicine; Attending Staff, Section of Pediatric Hematology and Oncology, Kosair Children's Hospital

Alexandra C Cheerva, MD, MS is a member of the following medical societies: American Society for Blood and Marrow Transplantation, American Society of Clinical Oncology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, International Pediatric Transplant Association, and Kentucky Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

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.

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.

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

Disclosure: Nothing to disclose.

Ashok B Raj, MD  Associate Professor, Section of Pediatric Hematology and Oncology, Department of Pediatrics, Kosair Children's Hospital, University of Louisville School of Medicine

Ashok B Raj, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, and Kentucky Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Gary D Crouch, MD  Associate Professor, Program Director of Pediatric Hematology-Oncology Fellowship, Department of Pediatrics, Uniformed Services University of the Health Sciences

Gary D Crouch, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Hematology

Disclosure: Nothing to disclose.

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.

Chief Editor

Max J Coppes, MD, PhD, MBA  Senior Vice President, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University School of Medicine; Clinical Professor of Pediatrics, George Washington University School of Medicine and Health Sciences

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors Afshin Ameri, MD, and Linda K Hendricks, MD,to the development and writing of the source articles.

References

  1. Chui DH. Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. Ann N Y Acad Sci. 2005;1054:25-32. [Medline].

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

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

  4. Danquah I, Mockenhaupt FP. Alpha(+)-thalassaemia and malarial anaemia. Trends Parasitol. Nov 2008;24(11):479-81. [Medline].

  5. Liu YT, Old JM, Miles K, et al. Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. Feb 2000;108(2):295-9. [Medline].

  6. Chan V, Yam I, Chen FE, Chan TK. A reverse dot-blot method for rapid detection of non-deletion alpha thalassaemia. Br J Haematol. Mar 1999;104(3):513-5. [Medline].

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

  8. Lal A, Goldrich ML, Haines DA, Azimi M, Singer ST, Vichinsky EP. Heterogeneity of hemoglobin H disease in childhood. N Engl J Med. Feb 24 2011;364(8):710-8. [Medline].

  9. Casas-Castaneda M, Hernandez-Lugo I, Torres O, et al. Alpha-thalassemia in a selected population of Mexico. Rev Invest Clin. Sep-Oct 1998;50(5):395-8. [Medline].

  10. Ko TM, Hwa HL, Liu CW, et al. Prevalence study and molecular characterization of alpha-thalassemia in Filipinos. Ann Hematol. Aug 1999;78(8):355-7. [Medline].

  11. Haas PS, Roy NB, Gibbons RJ, Deville MA, Fisher C, Schwabe M. 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].

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

  13. Tongsong T, Srisupundit K, Luewan S. Outcomes of pregnancies affected by hemoglobin H disease. Int J Gynaecol Obstet. Mar 2009;104(3):206-8. [Medline].

  14. Tantiweerawong N, Jaovisidha A, Israngura Na Ayudhya N. Pregnancy outcome of hemoglobin H disease. Int J Gynaecol Obstet. Sep 2005;90(3):236-7. [Medline].

  15. Giambona A, Passarello C, Renda D, Maggio A. The significance of the hemoglobin A(2) value in screening for hemoglobinopathies. Clin Biochem. Dec 2009;42(18):1786-96. [Medline].

  16. Ribeiro DM, Sonati MF. Regulation of human alpha-globin gene expression and alpha-thalassemia. Genet Mol Res. 2008;7(4):1045-53. [Medline].

  17. [Guideline] Gibson BE, Todd A, Roberts I, et al. Transfusion guidelines for neonates and older children. Br J Haematol. Feb 2004;124(4):433-53. [Medline]. [Full Text].

  18. Liu JZ, Yan M, Wang LR, et al. Molecular prenatal diagnosis of alpha-thalassemia using real-time and multiplex polymerase chain reaction methods. Hemoglobin. 2008;32(6):553-60. [Medline].

 
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Alpha-chain genes in duplication on chromosome 16 pairing with non-alpha chains to produce various normal hemoglobins.
Peripheral smear from patient with hemoglobin H disease showing target cells, microcytosis, hypochromia, and anisopoikilocytosis. Morphologic abnormalities are similar to those observed in beta thalassemia. In silent carriers, only mild microcytosis is observed.
 
 
 
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