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Treating Thalassemia: DNA Testing

Treating Thalassemia
▶ DNA Testing
▶ Transfusion
▶ Chelation
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        --Desferal guide
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    » L1
    » Combination
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▶ Bone marrow transplant
    » HLA genetics
    » BMT factsheet
▶ Hydroxyurea
▶ Standard of Care Guidelines
▶ Non-transfusion-dependent thalassemia: TIF guidelines
▶ Non-transfusion-dependent thalassemia: Review
▶ Intrauterine Therapy for Alpha Thal Major
 
Thalassemia Standard-of-Care Guidelines (mobile optimized)
SOC QR
 

DNA TESTING PRIOR TO TREATMENT

DNA 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).


Northern California Comprehensive Thalassemia Center
UCSF Benioff Children's Hospital Oakland
747 52nd Street, Oakland CA 94609   •   Phone: (510) 428-3651   •   Fax: (510) 450-5647
© 2003-2012 Children's Hospital & Research Center Oakland
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