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A 48-year-old member asked:

What does it mean if i'm a carrier of beta chain-related hemoglobinopathy and spinal muscular atrophy?

1 doctor answer2 doctors weighed in
Dr. Ilene Ruhoy
Neurology 21 years experience
Carrier status: SMA is an autosomal recessive neuromuscular disease To be a carrier means you have one 5q deletion on chromosome 5. Beta chain hemoglobinopathy means you have an altered beta chain of hemoglobin as seen in diseases such as sickle cell. Carrier status means you do not have disease but have ability to pass it on to offspring who will have disease if other parent is carrier and passes it on as well.

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Last updated May 24, 2016
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