Diseases Diseases

A Brief List Of Genetic Diseases

Genetic diseases develop at the time of embryonic development due to defects in the genes of the chromosomes inherited from the parents. Genetic diseases are also known as congenital diseases. Here is a list of genetic diseases.

Hemophilia - In this disease, the blood clotting takes place very slowly due to the absence of certain special factors in the blood. Hemophilia is genetic disorder in which the sufferers (homozygous recessive female and the recessive X-bearing male) are at ar risk of bleeding to death because the blood fails to clot in them. Rare cases of hemophiliac males do occur but practically, none of hemophiliac females.

Color-blindness - A person suffering from this disease cannot distinguish between two colors, for example, red and green. It is more common in men.

Inheritance of X-linked genes as in color blindness and hemophilia is also called criss-cross inheritance. This is because the son (male sex) may get it from the otherwise normal but carrier mother and a color blind father may pass it on to the daughter making her color-blind if the mother is a carrier.

Thalassemia - is the disease of defective RBC (Red Blood Corpuscles) hemoglobin. A child with such defect needs blood transfusion very frequently.

Sickle Cell Anemia - Recessive autosomal gene causes abnormalities in hemoglobin resulting in sickle cells in the RBC.  These rigid sickle cells obstruct capillary blood flow.

Down's Syndrome - Also known as Mongolian idiocy, it is caused by trisomy of 21st automatic chromosome having a total of 47 chromosomes instead of 46. It is characterized by round face, flattened nasal, bridge, broad forehead, projecting lower, lip, short neck, stubby fingers etc.

Phenylketonuria - causes deficiency of an enzyme called phenylalanine hydroxyls in liver. The deficiency leads to mental retardation, hypo-pigmentation of skin and hair, eczema, mousy odor of skin, hair and urine).

Tips and comments:

Newly married couples are advised to consult a specialist regarding the possibilities of any undesirable trait which their children might inherit. From the list of genetic diseases mentioned, diseases like hemophilia, thalassemia and sickle cell anemia can be prevented to some extent by proper genetic matching of the prospective parents.

By Smita, published at 12/24/2011
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