Sandhoff Disease By: Domenic Cherry

What is the disease?

Sandhoff is a neural disease that breaks down the beta-hexosaminidase B and beta-hexosaminidase A proteins, which are proteins found in lysosomes

What is the gene that the mutation occurs in to cause this disease?

It affects the HEXB gene.

What protein is produced by the gene from #2?

Beta-Hexosaminidase A and B is produced from the gene.

How and when was the disease first discovered/documented?

It was first discovered in 1968 by K Sandhoff

What is the incidence rate of the disease in the US? In the world?

The incident rate is 1-9 / 1,000,000 in the world. It is usually found in Europe and near the middle-east.

Are any specific populations of people affected more than others?

In Europe the disease rate is 1/130,000 which is more than most

What are the symptoms?

Symptoms may include: enlarged organs, bone abnormalities, stunned growth and development, eye abnormalities called cherry-red spot, and enhanced reaction to loud noises.

How is the disease diagnosed?

It is diagnosed through biochemical genetic tests and molecular genetic tests. It is very close to Tay-Sachs disease, which means it is not easily distinguishable to each other.

How is the disease treated?

There are no treatments or ways to manage this disease as of now.

What is the prognosis for a patient diagnosed with the disease?

Sandhoff disease breaks down your nerves so if you catch it at as a newborn, you are dead by age 3-4.

What is the genetic pattern of inheritance (autosomal or sex-linked, dominant or recessive)?

Sandhoff is a autosomal recessive disease

What current research is being conducted on the disease or its treatments?

Bone marrow transplants have shown extra lifespan and improved behavior. CRISPR is a way to treat and cure this disease, but we have not yet finished working on CRIPSR.


Genetics Home Reference. US. National Library of Medicine, 31 Jan. 2017, Accesed 2 Feb. 2017

Tifft Scientific Summary. National Human Genome Research Institute, 6 Jan. 2015, Accesed 2 Feb 2017.

::Sandhoff Disease. OrphaNet, April 2006, Accesed 2 Feb 2017.

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