Genetic disordersare those caused by abnormalities in the genes or chromosomes. In most cases,these abnormalities are caused by defective genes inherited from the parents. Changesin the chromosomes, such as chromosomal aberrations or absence or presence ofentire chromosome may also cause genetic disorders.
There areover 4.000 different genetic diseases identified so far, but scientists anddoctors are still unable to prevent them. To this day, we can detect some ofgenetic abnormalities in unborn children by ultrasound and some other medicaltechniques and methods. People allover the world suffer from genetic disorders. Some of the most common geneticdisorders are Down syndrome, Huntington’s disease, Alzheimer’s disease, sicklecell anemia and galactosemia.
Down syndromeis a developmental disorder, caused by additional copy of chromosome. Patients sufferingfrom this syndrome have a flat face and broad nose and their appearance is verydistinctive. Many of children with Down syndrome are mentally challenged and theyare exposed to higher risk of respiratory infections, hearing and visualproblems, leukemia and heart related conditions. Life expectancy of thesepatients is usually reduced by 50 years. Corrective surgery and physical andspeech therapy may help these patients.
Scientists havediscovered that mothers older than 35 years of age more often gave birth tochildren with Down syndrome. Ultrasound may detect this syndrome in an unbornchild.
This geneticdisorder affects the speech, thought and movements. First symptoms usually appearin people in an age group of 30 to 50-year-olds and the condition progresses, causingmore problems. Patient suffering from Huntington’s disease needs constantmedical care and drugs, but with physical and speech therapy he can lead a normallife.
Alzheimer’saffect the functioning of the brain, memory, thought and language. This conditionusually affects older people. Patients start to lose the ability to think orremember anything. Although there is no cure for this disease, medications mayslow down the progression of the symptoms.
Red bloodcells become rigid in this type of anemia. They normally transport oxygen fromthe lungs to other parts of the body, but because of the rigidity, there isless oxygen transported to important organs in the body. Heart, kidneys,liver, spleen and lungs get less oxygen than they need so patients experienceanemia, jaundice and growth problems. In most cases, patients suffering fromthis genetic disorder live 30 to 40 years. The most common treatment optionsare blood transfusions, plenty of water and avoidance of exercise and stress.
Galactosemiais caused by the lack of enzyme known as GATL. Because of that, they can’t metabolizegalactose from the milk or dairy products. Accumulated galactose may cause enlargedliver, kidney failure and retardation. Dietary restrictions early in the lifemay prevent these complications, but the patients must avoid milk and dairyproducts for the rest of their lives.