Management Guidelines
In 2017, the Thalassemia International Federation updated its Guidelines for the Management of Non-Transfusion-Dependent Thalassemia, including beta-thalassemia (-thalassemia) intermedia, HbH disease, and hemoglobin E/-thalassemia .
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with alpha-thalassemia (-thalassemia), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended. Hemoglobin Bart hydrops fetalis (Hb Bart) syndrome. See .
Hemoglobin H (HbH) disease
Differentiation of deletion (mild) from non-deletion (moderate to severe) forms of HbH disease by appropriate molecular genetic testing of HBA1 and HBA2 at presentation because of varying severity
Referral to a hematologist
Consultation with a medical geneticist, certified genetic counselor, or certified advanced genetic nurse to inform affected individuals and their families about the nature, mode of inheritance, and implications of -thalassemia in order to facilitate medical and personal decision making
Treatment of Manifestations
Hb Bart syndrome was previously considered a universally fatal condition; however, its prognosis is shifting because of prenatal testing, intrauterine blood transfusions, improved transfusion strategies, and (rarely) curative hematopoietic stem cell transplantation .
Source: GeneReviews — "Alpha-Thalassemia"
