Genetic disorders sickle cell disease

How function depends on structure can be seen in the case of the genetic disorder sickle cell anemia. This is a debilitating, sometimes fatal, disease in which red blood cells become distorted ( sickle-shaped ) and interfere with the flow of blood through the capillaries. This condition results from the presence of an abnormal hemoglobin in affected people. The primary structures of the beta chain of normal and sickle cell hemoglobin differ by a single amino acid out of 149 sickle cell hemoglobin has valine in... 

In nephrogenic diabetes insipidus the kidney s ability to respond to AVP is impaired by different causes, such as drugs (e.g. lithium), chronic disorders (e.g. sickle cell disease, kidney failure) or inherited genetic disorders (X-linked or autosomal NDI). This type of diabetes insipidus can not be treated by exogenous administration of AVP or AVP analogues. Instead, diuretics (hydrochlorothiazide combined or not with amiloride) and NSAI (indomethacin) are administrated to ameliorate polyuria. 

Sickle cell disease describes several genetically determined disorders of which the principal one is sickle cell anemia, where individuals are homozy-gotic (HbSS or HbCS) for defective hemoglobin production in the beta chain (HbS). In the United States, about 50,000 African-Americans in the late... 

A family medical history can identify people with a higher-than-usual chance of having common disorders, such as heart disease, high blood pressure, stroke, certain cancers, and diabetes. These complex disorders are influenced by a combination of genetic factors, environmental conditions, and lifestyle choices. A family history also can provide information about the risk of rarer conditions caused by mutations in a single gene, such as cystic fibrosis and sickle cell anemia. 

Examples of genetic conditions that are more common in particular ethnic groups are sickle cell anemia, which is more common in people of African, African-American, or Mediterranean heritage and Tay-Sachs disease, which is more likely to occur among people of Ashkenazi (eastern and central European) Jewish or French Canadian ancestry. It is important to note, however, that these disorders can occur in any ethnic group. 

As discussed above, in the case of phenylketonuria, early intervention can make the difference between mental retardation and a near normal life course for a newborn. Congenital adrenal hyperplasia and maple syrup urine disease are two examples of neonatal hereditary disorders where early diagnosis and medical intervention can make the difference between life and death for the newborn. In addition, in a number of genetic diseases, early diagnosis and treatment can help ameliorate symptoms these include fragile X syndrome, homocystinuria, sickle cell anemia, cystic fibrosis, and many /1-thalassemias. 

Among its many other applications, DNA fingerprinting is widely used for the diagnosis of genetic disorders. Cystic fibrosis, hemophilia, Huntington s disease, Tay-Sachs disease, and sickle-cell anemia are among the many diseases that can be detected, enabling early treatment of an affected child. In addition, the U.S. Department of Defense now requires blood and saliva samples from all military personnel. The samples are stored, and DNA is extracted should the need for identification of a casualty arise. 

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