8. Compare the treatments for galactosemia and sickle cell disease. 9. Suggest i

Question

8. Compare the treatments for galactosemia and sickle cell disease.
9. Suggest improvements to the informed consent process for newborn screening.
10. Discuss reasons that people might request that newborn screening not be done.
11. Discuss criteria for selecting diseases that can be tested for in newborns.
12. Compare mass spectrometry, which is the analytical technique used in newborn screening, to genetic testing to confirm diagnoses.
13. Do web research to distinguish between galactosemia and the lactose intolerance that affects many adults.

Explanation / Answer

Treatment of galactosemia :
i) Elimination of galactose & lactose from diet
ii) Infant diagonised with the disorder will be simply changed to soy-based formula devoid for galactose.
iii) Also early detection is the key to control the symptoms.
Treatment of sickle cell anemia:
Bone marrow transplant is the only potential way to control the sickle cell anemia.
Newborn screening is also performed.
Medications are also helpful upto a cubain extent.
e.g. Antibiotics are given to children below the age of 2 months.
c) The people apt for not going with the process of newborn screening the here the baby pricked within 2 to 3 days of birth for detection of the life threatning disorders. However it is a costly procedure & many people can not afford to pay for the tests and locating the child with abnormal screening is difficult.
B) The only improvement clone in the newborn screening is the improvement of quality and the assurance of quality should be considered properly with the help of aggregation of the data of NBS programme.
D) The disorder included in the screening process of newborns vary from state to state.
The conditions included in screening can cause serious health problems if not treated shortly after the time of birth.
They can lead to life Threatning complications.
e.g. Galactosemia, Phenylketourea also.
F) Galactosemia being an "inborn error of metabolism,"the person suffering from this ailment become incapable of converting sugar into anything and start accumlating in the body. It is a long term disorder.
On the other lactose intolerance is defined as the inability to split lactose into glucose & galactose.

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