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

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.

Related Questions

Where can I find information on carrier screening for spinal muscular atrophy?

I will post the link. National human genome research institute has a write up onthis http://www.Genome.Gov/27026048. Read more...
Genetics counselor . Been thru this with my first daughter. I was fortunately not a carrier and my daughter is fine. Your local hospital should have a genetics counselor who can go over all the info available such as testing, results, and options. Read more...

How can you prevent spinal muscular atrophy?

Counseling . Genetic counseling is advised for those who have a family history of spinal muscular atrophy who wish to have children. This group of diseases is inherited. Prevention is through counseling. Read more...

Differentiate between duchenne and spinal muscular atrophy?

Muscle vs motor neur. Duchenne muscular dystrophy is a disease of the muscles wherein the muscles degenerate and are replaced by fibrous and fatty tissue. Spinal muscular atrophy may look similar, but it is not a dystrophy. It is a disease of motor neurons. It is an inherited recessive disease. Read more...

How long can someone live with type 1 SMA (spinal muscular atrophy)?

Years. Although we used to see these children pass away within the first 1-2 years of life, now with good handwashing, treatment of infection, and machine ventilation, lifespan has increased. Read more...

What is the life expectancy for people who have spinal muscular atrophy?

Depends. Some can live a normal life expectancy. A lot has to do with the care givers. Hope this helps. Read more...
Depends on subtype. Werdnig-hoffmann, maybe 2 yrs, chronic infantile, perhaps 20-30 yrs, and kugelberg-welander, full life span. Read more...

How much time can a child live with type one SMA (spinal muscular atrophy)?

Not too long. Most children with type one SMA unfortunately develop severe muscle weakness that reflects on their ability to breath effectively and would pass away within few months of life unless they get on long term mechanical ventilation. Such a treatment is generally not recommended as it would prolong suffering with no improvement in the muscle function. . Read more...

How long can a child live successfully with type one SMA (spinal muscular atrophy)?

Depends on type. Prognosis is poor for infants with sma type i. Most die w/in the 1st 2 years. Sma type ii: prognosis for life expectancy or independent standing/walking roughly correlates with how old they are when they first begin to experience sx's - older children tend to have less severe symptoms life expectancy is reduced with survivers in young adulthood. Type iii prone to resp. Infections-nml life span. Read more...

Does spinal muscular atrophy (sma) prevent children from speaking?

Yes. If they live long enough and have enough physical strength. This is a family of cruel diseases of widely variable severity. Read more...