eMedicine Specialties > Hematology > Red Blood Cells and Disorders

Thalassemia, Alpha: Follow-up

Author: Samer A Bleibel, MD, Staff Physician, Department of Internal Medicine, Wayne State University, St John's Hospital and Medical Centers
Coauthor(s): Robert J Leonard, MD, Clinical Assistant Professor, Department of Medicine, Wayne State University School of Medicine; Jennifer L Jones-Crawford, MD, Fellow, Department of Hematology/Oncology, Medical College of Georgia; 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; Linda K Hendricks, MD, Assistant Professor, Department of Internal Medicine, Section of Hematology and Oncology, Mercer University School of Medicine
Contributor Information and Disclosures

Updated: Aug 26, 2009

Follow-up

Prognosis

  • The prognosis is excellent for silent carriers.
  • Because hydrops fetalis is incompatible with life, hemoglobin H (--/--) is the most serious syndrome.
  • The overall survival for hemoglobin H disease is variable; however, it is generally good. Many patients survive into adulthood. However, some patients have a more complicated course and may not do as well.

Patient Education

Patients with a family history or known carrier state for alpha thalassemia gene mutations should obtain genetic counseling to determine genotype and risk to offspring. This is especially true in cases of suspected concomitant hemoglobinopathy.

Miscellaneous

Medicolegal Pitfalls

Alpha thalassemia is frequently mistaken for iron deficiency anemia because both disorders have microcytic red blood cells. Iron therapy is not required, and prolonged therapy may produce untoward effects from iron overload. Similarly, the procedures used to find a source of bleeding in patients with iron deficiency anemia have no value in patients with thalassemia. Measurements of serum iron and ferritin can provide laboratory evidence to exclude iron deficiency as the etiology for microcytosis.

 


More on Thalassemia, Alpha

Overview: Thalassemia, Alpha
Differential Diagnoses & Workup: Thalassemia, Alpha
Treatment & Medication: Thalassemia, Alpha
Follow-up: Thalassemia, Alpha
Multimedia: Thalassemia, Alpha
References
Further Reading
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References

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

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

  4. 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].

  5. 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].

  6. 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].

  7. 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].

  8. 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].

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

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  17. 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].

  18. 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.

  19. 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].

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  22. 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].

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  24. 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].

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

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

  27. 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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Further Reading

Related eMedicine Topics

Clinical Trials
 National Guideline Clearinghouse

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Keywords

alpha thalassemia, hemoglobin H disease, hydrops fetalis, alpha thalassemia minor, alpha thalassemia major, thalassemia intermedia, alpha globin chains, beta thalassemia, beta globin chains, silent carrier state, homozygous alpha+ thalassemia, heterozygous alpha0 thalassemia, hemoglobin H, hemoglobin Bart, hemoglobin Bart’s

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Contributor Information and Disclosures

Author

Samer A Bleibel, MD, Staff Physician, Department of Internal Medicine, Wayne State University, 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.

Medical Editor

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.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

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

CME Editor

Rajalaxmi McKenna, MD, FACP, Consulting Staff, Department of Medicine, Southwest Medical Consultants, SC, 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, 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 Hematology, and New York Academy of Sciences
Disclosure: Nothing to disclose.

 
 
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