Alpha Thalassemia Treatment & Management

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 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 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.

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.

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.

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.

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.