Alpha Thalassemia Differential Diagnoses

  • Author: Alexandra C Cheerva, MD, MS; Chief Editor: Hassan M Yaish, MD  more...
Updated: Jun 27, 2016

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. Many laboratories now perform a panel for seven alpha thalassemia gene mutations, which could identify the precise genotypic status of the patient.

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.[24, 25]

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

Contributor Information and Disclosures

Alexandra C Cheerva, MD, MS Associate Professor of Pediatrics, University of Louisville School of Medicine; Director of Pediatric Blood and Marrow Transplantation, 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, Children's Oncology Group, American Society of Clinical Oncology, International Pediatric Transplant Association, American Society of Pediatric Hematology/Oncology, Kentucky Medical Association

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, Georgia Regents University

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

Disclosure: Nothing to disclose.

Ashok B Raj, MD 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, Kentucky Medical Association, Children's Oncology Group

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, American Society of Hematology

Disclosure: Nothing to disclose.

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.

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Hassan M Yaish, MD Medical Director, Intermountain Hemophilia and Thrombophilia Treatment Center; Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology, Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center

Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, New York Academy of Sciences, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society

Disclosure: Nothing to disclose.

Additional Contributors

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, SWOG

Disclosure: Partner received none from No financial interests for none.


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.

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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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