Krabbe Disease Genetic Components Research Paper

Pages: 4 (1378 words)  ·  Bibliography Sources: 8  ·  File: .docx  ·  Topic: Disease

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The only known treatment that has some effect on the progression of the disease is a bone marrow or cord blood transplant. The healthy cells received in the transplant can make the GALC enzyme which was missing in the body. Though it has serious risks and is not an option for all patients, a transplant can be life- saving and prevent severe disability for some people with GLD (Staff, 2011).

Cord Blood Transfusion

It has been seen that blood transfusion of blood stem cells which are taken form umbilical cord od any unrelated donor can play an important role in the reduction of neurological symptoms in infants. If this is done before the symptoms are appeared, it is possible that the child can maintain his/her vision and hearing ability.

Treatment for Late on-set Form

The people with late on-set Krabbe disease have benefited from treatment with umbilical cord blood stem cells, although this treatment has been most successful in pre-symptomatic patients with the early on-set form of the disease. In cases, where the treatment has been successful, neural deterioration is slowed and symptoms are less severe.

Gene Therapy

Gene therapy is a new method which attempts to provide working copies of genes to people with non-working copies. The DNA sequence of a working gene is placed into the person with an enzyme deficiency. Working enzyme would be made by the person's "new" cells and degrade whatever substance has been stored.

Incidence and Longevity of the disease

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In the United States, Krabbe disease affects about 1 in 100,000 individuals. A higher incidence (6 cases per 1,000 people) has been reported in a few isolated communities in Israel.

The Early on-set form of Krabbe disease is usually fatal before the age of two. Those infants who receive cord blood stem cells before the appearance of symptoms have longer lifespans.

Those with Late on-set Krabbe disease usually live between 2 and 7 years after the on-set of symptom. (Tegay, 2012)

Socioeconomic Factors

TOPIC: Research Paper on Krabbe Disease Genetic Components of Assignment

Taking care of a child with Krabbe disease is a very tough job. It is not possible to do it alone. One has to become a social outcast. Since it does not have a complete cure, therefore the person is completely dependent on others. Some children need therapy even if they get treatment. Some require blood transfusion, which puts an economic pressure too. The cost of treatment is high. It is seen that Krabbe develops more in Israel than population at large. In United States it affects every 1 person in 100,000 populations (Mayo Clinic Staff, 2011). There are many organizations working all over the world to provide support to those who are suffering from Krabbe.

Conclusion

It is very important for people to be aware about the severity of this disease. Since it has a genetic aspect and is carried, any couple who is a carrier or have a family member who has this disorder should consult the doctor in order to get a complete picture about the disease and its risks. It is very important to have a screening test for to-be-born children so that their treatment can be carried out as soon as they are born and can have a better chance to fight it. New York has adopted such infant screening program which is veryaffective because the early detection can improve the quality of life for the child. Hence, early detection is the key to fight the disease. Otherwise, they will have to suffer painful complications like blindness and deafness. The only way to prevent it is the parenting test for couples who are considering having children.

Bibliography

(2011). The Case of Krabbe Disease. In J. Lantos, Dangerous and Expensive Screening and Treatment for Rare Childhood Diseases. Kansas City, Missouri.

Mayo Clinic Staff. (2011, June). Mayo Clinic. Retrieved March 2013, from Krabbe Disease: http://www.mayoclinic.com/health/krabbe-disease/DS00937/DSECTION=risk-factors

Orchard, P. (2013). National Marrow Donor Program. Krabbe Disease.

Rosenberg, R.N. (2008). The Molecular and Genetic Basis of Neurologic and Psychiatric Disease. Lippincott Williams & Wilkins.

Staff, M.C. (2011).… [END OF PREVIEW] . . . READ MORE

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