A genetic inheritance pattern in which an affected individual has two copies of a mutant gene on a pair of autosomal chromosomes.
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This virtual meeting is an opportunity for individuals diagnosed with Fanconi Anemia Neurological Syndrome (FANS) and their families to gather, share experiences, and find mutual support for navigating FANS. Registration is required and participants must speak English as interpretation is...
When Annzie was six, what started as a routine well visit turned our world upside down. She had always been small for her age, but that visit revealed more: recurring infections and low platelet counts that led to urgent bloodwork. We were referred to hematology, and that began our FA journey.
People with rare diseases like FA often rely on a combination of healthcare programs and insurance coverage. Any change that reduces access to care or increases out-of-pocket costs can have real-world consequences for our community.