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All Woman

A word about genetic diseases

Nadine Wilson

Monday, January 25, 2010



ONE of the more common things new parents do after birth is to take note of their baby's physical features and make comparisons to determine which parent they share features with. But have you ever stopped to consider that you might have passed on more to your child than your brown eyes, your puffy cheeks and your pointed nose?

It is a fact that some parents do pass down varying health conditions to their children that can become obvious as early as a few months old or even before birth. Nobody wants their child to have to struggle with a health problem, but observing signs of illnesses in your child could help you to get the necessary treatment for them from early. Also knowing about your genetic risks could help you prepare.

It is for this reason that paediatrician Dr Cathy-Anne McKie advises parents to take stock of their family's health history while they are pregnant, so they can do the necessary testing of their babies.

"There are some genetic diseases where if the parent has a heightened awareness then they can get the necessary diagnosis," she said

This week, we will feature some common genetic health conditions that you can pass on to your children. Check your history and make adequate preparations if this is the case.

1. Sickle cell anaemia: This disease usually causes fatigue and pain in the bones and stomach. A parent who has sickle cell could pass on the trait to their child, and if it is a case where both parents have it, then the baby could also have sickle cell. Testing is currently done on babies whose parents have the trait. "It's the parent's duty to find out whether the sickle cell testing was done on their child and to find out the results," said Dr Mckie.

2. Haemophilia: This is a rare blood disorder that results in the blood not clotting as it should. This disorder is passed down from parent to child and affects mostly boys. Children with haemophilia might have a difficult time healing from a cut they receive while doing things like crawling, playing a game or coming in contact with sharp objects. Women who have brothers affected by this disorder ought to get their boys checked out at birth.

3. Deafness (waardenburg syndrome): This is a rare genetic disorder which results in varying degrees of deafness. Babies infected with the condition, usually have at least one parent who suffers from it as well. The disease usually causes symptoms such as very pale blue eyes or eyes of two different colours, patches of white pigmentation on the skin, premature greying of the hair and moderate to extreme hearing loss.

4. Osteogenesis imperfecta: This genetic bone disorder is commonly known as brittle bone disease. The brittleness of the bone is due to the baby's inability to produce the protein collagen. Children sometimes develop abnormal spinal curvature and loose joints.

5. Nuero fibro matosis: This is a hereditary condition that affects the skin, eyes, kidneys, and other body parts including the nerves. Children affected by this disorder usually have fat, smooth or medium to light irregularly shaped spots on their skin.


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