DNA TESTING PRIOR TO TREATMENT
Because of the enormous diversity in clinical severity of thalassemia patients, complete DNA testing prior to commencement of treatment is required to determine prognosis, appropriate therapy, and family counseling. Definitive diagnosis and family counseling should be done in conjunction with a thalassemia center
GENETIC TESTING
If HLA typing is performed when stem cell transplant or bone marrow transplant is an option, genetic counseling and education is vital due to ethical implications. A genetic counselor should provide initial and ongoing teaching regarding natural history and clinical manifestations; signs and symptoms of disease that warrant immediate medical attention; and available emotional and social support services. Genetic counselors should also provide available resources in collaboration with outreach coordinators and social workers (e.g., research studies, support groups, advocacy organizations, and patient-to-patient or parent-to-parent connections).
