Hereditary disease, Sickle cell anemia

A few years ago it was discovered that the disease sickle-cell anemia is a disease of the hemoglobin molecule the patients with this disease manufacture abnormal molecules of hemoglobin, rather than normal adult human hemoglobin, and there is strong indication that the abnormal molecules of hemoglobin are directly responsible for the symptoms of the disease. Since then it has been discovered that there are a number of other hereditary hemolytic anemias that are caused by abnormal kinds of human hemoglobin. Several review articles in this field have been published recently. - > ... 

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. 

The diseases and disorders chosen for discussion and the order of presentation parallel subject matter taught in most first-year medical biochemistry. Chapters in the first part of the book, Nucleic Acids and Protein Structure, illustrate the relationships of protein structure and function with respect to collagen (Osteogenesis Imperfecta) and hemoglobin (Sickle Cell Anemia). The chapters Fragile X Syndrome and Hereditary Spherocytosis discuss key aspects of DNA and protein structure and their respective role in chromosomal and cytoskeletal structure. The chapter cardiac troponin and myocardial infarction provides an up-to-date demonstration of the usefulness of both structural proteins and enzymes as markers of cardiovascular disease, while the chapter cx Anti trypsin Deficiency discusses the important role of endogenous enzyme inhibitors. 

Sickle cell anemia is a hereditary disease in which abnormally shaped red blood cells restrict the flow of blood to vital organs in the human body, causing swelling, severe pain, and in many cases a shortened life span. There is currently no cure for this condition, but its painful symptoms are known to be caused by a defect in hemoglobin, the oxygen-carrying protein in red blood cells. 

Sickle cell anemia is an example of the damage that can be caused by a change in a single base of DNA (Problem 55 in Chapter 23). It is a hereditary disease caused when a GAG triplet becomes a GTG triplet in the sense strand of a section of DNA that codes for the 8-subunit of hemoglobin. As a consequence, the mRNA codon becomes GUG—which signals... 

Leithner A, Machacek F, Haas OA, Lang S, Ritschl P, Radi R, Windhager R (2004) Aneurysmal bone cyst a hereditary disease J Pediatr Orthop 13B 214-217 Li JKW, Birch PD, Davies AM (1988) Proximal humeral defects in Gaucher s disease. Br J Radiol 61 579-583 Lonergan GJ, Cline DB, Abbondanzo SL (2001) From the archives of the AFIP sickle cell anemia. RadioGraphics 21 971-994... 

Drug-sensitive hemolytic anemia is a hereditary disease, transmitted by a sex-linked dominant trait with low penetrance. The disease is widely distributed, and it is estimated that at least one hundred million people are affected by it. The anemia has been observed among many groups including Negroes, Jews, and Caucasians. It is prevalent in areas endemic for malaria. This association between malaria and drug-sensitive anemia results from a situation similar to that observed in sickle cell anemia, namely balanced polymorphism. 

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