Alpha Thalassemia Treatment & Management
- Author: Alexandra C Cheerva, MD, MS; Chief Editor: Max J Coppes, MD, PhD, MBA more...
Approach Considerations
Individuals with mild forms of alpha thalassemia may not require specific treatment except as needed for management of low hemoglobin levels. In some patients, supplementation of iron or folic acid may be useful. Patients with more severe anemia may require lifelong transfusion therapy. Surgical therapy is considered only in selected cases.
Iron and Folic Acid Supplementation
Iron deficiency must be documented carefully with laboratory testing before supplemental iron is given. Iron supplementation does not improve hematologic values in alpha thalassemia. Many patients with apparent iron deficiency actually have iron overload (hemochromatosis), the effects of which can contribute to morbidity and mortality. Iron overload is a particular concern in patients with hemoglobin H (HbH) disease or those rare surviving patients with alpha thalassemia major. In patients with elevated ferritin levels, the diet should be low in iron.
Folic acid supplementation may be beneficial in patients with elevated reticulocyte counts, indicating increased utilization resulting from the hemolytic process and the high bone marrow turnover rate.
General Supportive Care
General supportive care in HbH disease, including transfusions, may be needed periodically or in periods of severe anemia, such as during parvovirus infections. Guidelines for transfusion in neonates and older children have been established.[17] Blood transfusions should be administered only if necessary.
Usually, patients with HbH disease live fairly normal lives and require few transfusions. Hemoglobin levels usually range from 7-10 g/dL. Transfusion therapy is reserved for patients with severe anemia (usually < 7 g/dL) and symptomatic anemia. If chronic transfusion therapy is needed, iron chelation therapy should be considered to prevent iron overload. Even patients who have not received a large number of transfusions may have elevated total body iron loads and may require chelation therapy.
Hemolytic episodes may be triggered either by drug use or by infection. The use of special red blood cell units (eg, washed, irradiated, or leukocyte-depleted) is usually unnecessary.
Other Medical Measures
Be aware of the risk of infections, particularly in children who have undergone splenectomy. Administer appropriate vaccines to these individuals.
In very severe cases, allogeneic hematopoietic stem cell transplantation may be considered. This measure is curative because the hematopoietic system of the patient is replaced by that of the donor. A sibling who is fully matched for human leukocyte antigen (HLA) and who is, at most, a carrier for alpha thalassemia (deletion of 2 alpha-globin genes) is the most suitable donor. However, because of the toxicity of the procedure, bone marrow transplantation should be limited to the most severely affected patients.
Splenectomy and Orthopedic Surgery
Surgical care is not needed for silent carriers or persons with alpha thalassemia trait. However, splenectomy may be beneficial for some patients with HbH disease. Usually, splenectomy is reserved for patients with symptoms of hypersplenism (as reflected by leukopenia, thrombocytopenia, and worsening anemia) or for patients who were previously stable and have developed a transfusion requirement. Orthopedic or orthodontic surgery may be necessary to correct skeletal abnormalities due to erythroid hyperplasia.
Prevention
Prenatal testing is available for families at risk (eg, families in which the parents are members of ethnic groups with the highest carrier rates). Globin-chain analysis can be performed by means of polymerase chain reaction (PCR) testing.[18]
Although neonatal screening is not sufficient in the diagnosis of HbH disease, patients who have the disease at birth have large amounts of hemoglobin Bart’s, which is detectable by neonatal screening.
Consultations
Patients usually undergo evaluation by a hematologist for initial diagnosis. Patients who are silent carriers or have the alpha thalassemia trait generally need no further hematology follow-up.
Patients with HbH disease usually undergo close follow-up monitoring by a hematologist who can coordinate care and treat the patient during acute hemolytic and anemic episodes.
Chui DH. Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. Ann N Y Acad Sci. 2005;1054:25-32. [Medline].
Muncie HL Jr, Campbell J. Alpha and beta thalassemia. Am Fam Physician. Aug 15 2009;80(4):339-44. [Medline].
Higgs DR, Weatherall DJ. The alpha thalassaemias. Cell Mol Life Sci. Apr 2009;66(7):1154-62. [Medline].
Danquah I, Mockenhaupt FP. Alpha(+)-thalassaemia and malarial anaemia. Trends Parasitol. Nov 2008;24(11):479-81. [Medline].
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].
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].
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].
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].
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].
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].
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].
Singer ST. Variable clinical phenotypes of alpha-thalassemia syndromes. ScientificWorldJournal. Jul 13 2009;9:615-25. [Medline].
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].
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].
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].
Ribeiro DM, Sonati MF. Regulation of human alpha-globin gene expression and alpha-thalassemia. Genet Mol Res. 2008;7(4):1045-53. [Medline].
[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].
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].

