Sickle syndromes

Systemic lupus erythematosus, Sjogren s syndrome, multiple myeloma, obstructive uropathy, cirrhosis, and sickle cell disease... 

Sickle cells were first identified by physician James Herrick in a 20-year-old medical student from Grenada in 1910.1 O Sickle cell syndrome refers to a collection of autosomal recessive genetic disorders that are characterized by the presence of at least one sickle hemoglobin gene (HbS).2,3... 

Treatment of SCD is aimed at the preventing and/or minimizing acute and chronic complications, including infection, acute chest syndrome, neurologic damage, and the various forms of sickle cell crises, including vaso-occlusive pain, splenic sequestration, and aplastic crisis. The acute and chronic complications are summarized in Tables 65-2,65-3, and 65-4. 

Sickle cell hemolytic transfusion reaction syndrome is a unique problem in SCD patients. Owing to alloimmunization, an acute or delayed transfusion reaction may occur. Delayed reactions typically occur 5 to 20 days after transfusion. Alloantibodies and autoantibodies resulting from previous... 

Sickle-cell syndrome A group of autosomal recessive genetic disorders characterized by the presence of at least one sickle-hemoglobin gene. 

In the U.S., the central nervous system syndrome is usually more common among children, and the gastrointestinal syndrome is more prevalent in adults. Exposure to lead is also linked to decreased fertility in men. Lead is a probable human carcinogen, based on sufficient animal evidence. Populations at increased risk of toxicity from exposure to lead include developing fetuses and young children, individuals with decreased kidney function, and children with sickle-cell anemia. 

Hammerman SI, Kourembanas S, Con-ca TJ, Tucci M, Brauer M, Farber H.W. Endothelin-1 production during the acute chest syndrome in sickle cell disease. Am J Respir Crit Care Med 1997 156 280-285. 

Sickle cell syndromes are hereditary disorders characterized by the presence of sickle hemoglobin (HbS) in red blood cells (RBCs). 

Medical indications Chronic pulmonary disease (excluding asthma) chronic cardiovascular diseases, diabetes mellitus chronic liver diseases, including liver disease as a result of alcohol abuse (e.g., cirrhosis) chronic alcoholism, chronic renal failure or nephrotic syndrome functional or anatomic asplenia (e.g, sickle cell disease or splenectomy [if elective splenectomy is planned, vaccinate at least 2 weeks before surgery]) immunosuppressive conditions and cochlear implants and cerebrospinal fluid leaks. Vaccinate as close to HIV diagnosis as possible. 

Currently, there is stUl a gap for the potential of gene therapy to be fulfilled. Gene therapy clinical trials have been conducted for diseases such as severe combined immunodeficiency disease (SCID, bubble baby syndrome), sickle cell anemia, cystic fibrosis, familial hypercholesterolemia, and Gaucher disease. 

Transplant and allergy also intersect in indirect ways. Acute chest syndrome is a frequent complication in patients with sickle cell disease and has been recently reported to be exacerbated or precipitated by asthma and respiratory allergies. Since SCT can halt this pulmonary destruction process, ongoing investigation at our and other institutions is focused on determining genetic and cytokine pathways and modulators for asthma in sickle cell disease. 

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. 

Unlabeled Uses Diabeticneuropathy gangrene, hemodialysis shunt thrombosis, septic shock, sickle cell syndrome, vascular impotence... 

Hemoglobinopathies have traditionally been defined as a family of dis orders caused by production of a structurally abnormal hemoglobin molecule, synthesis of insufficient quantities of normal hemoglobin, or, rarely, both. Sickle-cell anemia (HbS), hemoglobin C disease (HbC), and the thalassemia syndromes are representative hemoglobinopathies that can have severe clinical consequences. The first two conditions result from production of hemoglobin with an altered amino acid sequence, whereas the thalassemias are caused by decreased produc tion of normal hemoglobin. 

Despite its considerable involvement in metabolic processes, no specific deficiency syndrome in humans has been attributed to vitamin B6 (19,103). A considerable number of nonvitamin functions have been suggested, but they remain controversial (102,103,108-111). These include roles in coronary heart disease, immune response, premenstrual syndrome, sickle-cell anaemia, asthma, autism, gestational diabetes, carpal tunnel syndrome, and cancer. 

Common risk factors for developing branch retinal vein thrombosis (BRVT) and central retinal vein thrombosis (CRVT) include increased plasma fibrinogen, diabetes, decreased exercise, hypertension, and hyperviscosity (205). Sickle cell anemia, polycythemia vera, and other proliferative disorders may also lead to this syndrome. 

Vichinsky EP, Neumayr LD, Earles AN, et al. Causes and outcomes of the acute chest syndrome in sickle cell disease. National Acute Chest Syndrome Study Group. N Engl J Med 342 1855-1865,2000. 

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. 

Single-gene (also called Mendefian) disorders number more than 6000, with an incidence of about 1 in 200 births. Some examples include cystic fibrosis, sickle ceU anaemia, Marfan syndrome, Huntington s disease and hereditary haemochromatosis. Single-gene disorders are inherited in recognisable patterns autosomal dominant, autosomal recessive and X-hnked. 

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