Alpha Thalassemia Questions & Answers

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5. Muncie HL Jr, Campbell J. Alpha and beta thalassemia. Am Fam Physician. 2009 Aug 15. 80(4):339-44. [QxMD MEDLINE Link].

6. Higgs DR, Weatherall DJ. The alpha thalassaemias. Cell Mol Life Sci. 2009 Apr. 66(7):1154-62. [QxMD MEDLINE Link].

7. Yu J, Xie J, Luo L, Li Z. An Alu Element-Mediated 28.5?kb a-Thalassemia Deletion Found in a Chinese Family. Hemoglobin. 2014 Nov 5. 1-4. [QxMD MEDLINE Link].

8. Deo MG, Pawar PV. Alpha thalassaemia in tribal communities of coastal Maharashtra, India. Indian J Med Res. 2014 Aug. 140(2):231-7. [QxMD MEDLINE Link]. [Full Text].

9. Marsella M, Salvagno G, Dolcini B, Ferlini A, Ravani A, Harteveld CL, et al. Characterization of Hb Calvino (HBB: c.406G?>?A): a new silent ß-globin gene variant found in coexistence with a-thalassemia in a family of African origin. Hemoglobin. 2014. 38(5):369-72. [QxMD MEDLINE Link].

10. Danquah I, Mockenhaupt FP. Alpha(+)-thalassaemia and malarial anaemia. Trends Parasitol. 2008 Nov. 24(11):479-81. [QxMD MEDLINE Link].

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

12. Zhou YL, Zhang XH, Liu TN, Wang L, Yin XL. Splenectomy improves anaemia but does not reduce iron burden in patients with haemoglobin H Constant Spring disease. Blood Transfus. 2014 Oct. 12 (4):471-8. [QxMD MEDLINE Link]. [Full Text].

13. 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. 2000 Feb. 108(2):295-9. [QxMD MEDLINE Link].

14. Farashi S, Bayat N, Vakili S, et al. Point mutations which should not be overlooked in Hb H disease. Expert Rev Hematol. 2016 Jan. 9 (1):107-13. [QxMD MEDLINE Link].

15. Xu A, Ji L, Chen W, Xia Y, Zhou Y. Effects of α-thalassemia on HbA1c measurement. J Clin Lab Anal. 2016 Nov. 30 (6):1078-1080. [QxMD MEDLINE Link].

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

17. Nainggolan IM, Harahap A, Ambarwati DD, Liliani RV, Megawati D, Swastika M, et al. Interaction of Hb Adana (HBA2: c.179G>A) with Deletional and Nondeletional a⁺-Thalassemia Mutations: Diverse Hematological and Clinical Features. Hemoglobin. 2013 Apr 25. [QxMD MEDLINE Link].

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

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

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

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

22. Chaibunruang A, Prommetta S, Yamsri S, Fucharoen G, Sae-Ung N, Sanchaisuriya K, et al. Molecular and hematological studies in a large cohort of a⁰-thalassemia in northeast Thailand: Data from a single referral center. Blood Cells Mol Dis. 2013 Apr 29. [QxMD MEDLINE Link].

23. Li J, Li R, Zhou JY, Xie XM, Liao C, Li DZ. Prenatal control of nondeletional a-thalassemia: first experience in mainland China. Prenat Diagn. 2013 May 2. [QxMD MEDLINE Link].

24. Vichinsky E, Cohen A, Thompson AA, et al. Epidemiologic and clinical characteristics of nontransfusion-dependent thalassemia in the United States. Pediatr Blood Cancer. 2018 Jul. 65 (7):e27067. [QxMD MEDLINE Link].

25. 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. 2009 Feb. 144(4):538-45. [QxMD MEDLINE Link].

26. Joly P, Garnier N, Kebaili K, et al. G6PD deficiency and absence of α-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia. Eur J Haematol. 2015 Jun 13. [QxMD MEDLINE Link].

27. Brewin JN, Nardo-Marino A, Stuart-Smith S, et al. The pleiotropic effects of α-thalassemia on HbSS and HbSC sickle cell disease: Reduced erythrocyte cation co-transport activity, serum erythropoietin, and transfusion burden, do not translate into increased survival. Am J Hematol. 2022 Oct. 97 (10):1275-85. [QxMD MEDLINE Link]. [Full Text].

28. Chan WY, Leung AW, Luk CW, Li RC, Ling AS, Ha SY. Outcomes and morbidities of patients who survive haemoglobin Bart's hydrops fetalis syndrome: 20-year retrospective review. Hong Kong Med J. 2018 Apr. 24 (2):107-18. [QxMD MEDLINE Link].

29. Stevenson RE, Adam MP, Ardinger HH, et al. Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. GeneReviews. Updated 2020 May 28. [QxMD MEDLINE Link]. [Full Text].

30. Singer ST. Variable clinical phenotypes of alpha-thalassemia syndromes. ScientificWorldJournal. 2009 Jul 13. 9:615-25. [QxMD MEDLINE Link].

31. Chou A, Itchins M, de Reuver PR, et a;. ATRX loss is an independent predictor of poor survival in pancreatic neuroendocrine tumours. Hum Pathol. 2018 Aug 3. [QxMD MEDLINE Link].

32. Bahar A, Shekarriz R, Janbabai G, Shirzad R, Aarabi M, Kashi Z. Insulin resistance, impaired glucose tolerance and alpha-thalassemia carrier state. J Diabetes Metab Disord. 2015. 14:2. [QxMD MEDLINE Link].

33. Winichakoon P, Tantiworawit A, Rattanathammethee T, et al. Prevalence and Risk Factors for Complications in Patients with Nontransfusion Dependent Alpha- and Beta-Thalassemia. Anemia. 2015. 2015:793025. [QxMD MEDLINE Link]. [Full Text].

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

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

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

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

38. Kreger EM, Singer ST, Witt RG, et al. Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature. Prenat Diagn. 2016 Dec. 36 (13):1242-1249. [QxMD MEDLINE Link].

39. Zhang HJ, Amid A, Janzen LA, et al. Outcomes of haemoglobin Bart's hydrops fetalis following intrauterine transfusion in Ontario, Canada. Arch Dis Child Fetal Neonatal Ed. 2020 Jul 2. [QxMD MEDLINE Link].

40. 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. [QxMD MEDLINE Link].

Alexandra C Cheerva, MD, MS Emerita Associate Professor of Pediatrics, Division of Pediatric Hematology, Oncology and Stem Cell Transplantion, University of Louisville School of Medicine

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, Kentucky Medical Association

Disclosure: Nothing to disclose.

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.

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, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society, New York Academy of Sciences

Disclosure: Nothing to disclose.

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, The Society of Federal Health Professionals (AMSUS), International Society of Hematology, Society for Experimental Biology and Medicine, SWOG

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

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 at Augusta 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.

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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