Medical Genetics

What is Genetics?

The science of genetics or heredity, which is a branch of biology, is a science that examines how the characteristics of living organisms pass from generation to generation. The science of genetics, which investigates in depth how each feature of living things is formed and how these features are transferred to new living things through reproduction, has a wide range of studies. The science of genetics makes early diagnosis of many diseases possible and contributes to the development of treatment methods.

What are Hereditary Diseases?

Hemophilia: Hemophilia, which occurs as a result of the inability of the body to produce proteins that allow blood to clot, is an inherited disease and may eventually lead to death.

Down syndrome: Normally the body with 46 chromosomes, 27 in Down syndrome disease. Down syndrome patients with a specific face shape have low intelligence and poor speaking skills.

Color blindness: Another name for the disease caused by the inability of the brain to perceive some colors is daltonism. The brain cannot perceive blue, green, and red, and those with color blindness see the world almost entirely in black and white.

Albino: The skin is very thin and white in Albinoluk disease, which occurs due to the lack of melanin pigment that gives the skin its color, and the hair has a white color.

Sickle Cell Anemia: As a result of the disease caused by the red blood cells taking the shape of a sickle, the red blood cells cannot carry the oxygen that the body needs and prevents blood circulation by causing the vessels to be blocked.

In addition to these diseases, diseases such as cystic fibrosis, asthma, autism, leukemia, breast cancer, lung cancer, lymphoma, colon cancer, diabetes, goiter, phenyl ketonuria are also among hereditary diseases.

What is a Genetic Test?

Genes are located on chromosomes that are in the form of small filamentous structures. Normally, there are 46 chromosomes in each cell. 23 of these chromosomes come from the mother and 23 of them come from the father. In some special cases, mutation may occur during the copying of the gene that prevents it from working properly. The mutation can be the cause of a genetic disease. A blood or tissue test performed to identify the change in the chromosome or gene is defined as a genetic test.


Who is Genetic Counseling Required?

Genetic counseling is the process of providing information about the disease to people who have an inherited disease or are at risk of carrying it and their relatives. Providing of information is related to the course of the disease in question, the risks of recurrence, the treatment, if any, as well as which tests should be performed and the results of the tests.


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