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Genetics of Thalassemia

Genetics of Thalassemia
▶ Genetics 101
▶ Inheritance
▶ Genetic Counseling
▶ Thalassemia Trait
   --fact sheet PDF
▶ Genetic Testing
   --Testing for Trait
▶ Hemoglobin E Trait
▶ Prevalence & Demographics

Genetic Counseling

Genetic counseling is the communication process of providing information and support to individuals and families with a diagnosis and/or risk of occurrence of an inherited disorder. Culturally sensitive genetic counseling, with an emphasis on reproductive issues, is an integral and necessary component of comprehensive care for patients and parents affected by all forms of thalassemia disease and trait. Services should be provided by a licensed genetic counselor in states with licensure legislation and by an ABGC board-certified or board-eligible genetic counselor in all other states.

Genetic counseling is needed:

Critical components of genetic counseling include:

The limitations of drawing genotype/phenotype correlations include:

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
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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