Which Diseases Can be Inherited
Parents can pass genetic disorders onto their children, even if they don't have the disorder themselves. As carriers, Mum and Dad can pass diseases onto their offspring - something that's aptly referred to as a hereditary disease. Hereditary diseases can also occur when neither parent is a carrier, and fetal malformations may arise as a consequence.
Hereditary genetic disorders arise as new events, de novo, when genes become altered just prior to conception, and it is passed on to the newly conceived baby.
How Do Hereditary & Congenital Disorders Differ?
While congenital disorders typically refer to a baby with abnormal features at birth and often include genetically determined conditions and syndromes, some hereditary disorders do not manifest until much later in life. Another distinction that should be made is that genetic disorders aren't always hereditary, although hereditary disorders always have a genetic origin. Furthermore, congenital disorders can be either hereditary or not.
So, which diseases are hereditary?
Many genetic and congenital issues fall into the category of hereditary disorders, with just a few being listed below…
● Achondroplasia - when the cartilage doesn't develop as it should, resulting in short stature, macrocephaly and short limbs.
● Marfan syndrome - affects connective tissue, primarily including the skeleton, eyes, heart and blood vessels.
● Sickle-cell disease - impacts red blood cell shape and the ability to carry oxygen
● Type 1 hemochromatosis - a toxic buildup of excess iron from food that's stored in the liver, pancreas and heart.
● Colour blindness - affects a person's ability to distinguish between green & red or blue & yellow.
Who should get genetic testing for hereditary disorders like these? Well, you should consider it if your doctor suspects that you have a health issue caused by a change to one or more of your genes. Also, if a family member has a health condition that's caused by gene changes, you may wish to get yourself checked to see if you have the same problem.
Helping You Get Answers to Life's Important Questions
The genetics.ie team provides genetic testing for hereditary disorders, as well as testing for muscular dystrophies, infertility, birth defects and developmental problems. Under the watchful eye of highly experienced geneticist and our founder, Dr Willie Reardon, we can give you answer to the most important questions in life.
To find out more about us and what we do, visit us online today at www.genetics.ie or to get in touch with our team to discuss your testing needs, call 087 4037149 and we'll be happy to assist you in finding the perfect solution.