Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty of 85 children with membranous glomerulonephritis (MGN) had associated extraglomerular disorders. The relation of these associations to membranous glomerulonephritis (MGN) is discussed. The causal relationship of acute hepatitis (5 cases), persistent hepatitis B antigenemia (6 cases), systemic lupus erythematosus (2 cases) and syphilis (1 case) may be ascertained; in similar conditions a definite antigen (Ag) has been found in MGN deposits. The association with SS or SA hemoglobinopathy (3 cases) ans with a preceding streptococcal infection (4 cases) raises the possible responsibility of renal tubular epithelium (RTE) Ag and of a streptococcal Ag. D-penicillamine therapy (1 case) is a well-known cause of MGN although the acting Ag remains unknown. Four children had serum sickness-like symptoms, two had hematologic disorders and two had proximal tubular dysfunction, one of them with proven anti-tubular and anti-alveolar basement membrane antibodies. A decrease in plasma C4, Clq, and factor B with normal C3 was frequently observed. The multiple Ag previously described as causative of MGN are recalled. The prevalent incidence of HBsAg is stressed, and the necessity for further investigations in patients with MGN in order to find an underlying disease is emphasized.
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PMID:Membranous glomerulonephritis with extra-renal disorders in children. 44 58

Sickle cell anemia is associated with an alarming attrition rate during pregnancy. The maternal morbidity rate, perinatal wastage rate, and the incidence of severe morbidity in both mother and child are elevated above acceptable limits. In most cases, these statistics have been compiled using conservative therapeutic modalities. In contrast, this report utilizes prophylactic partial exchange transfusion therapy in patients with severe sickle cell hemoglobinopathies. The protocol involves the introduction of 750-1000 cc of buffy coat, poor washed red cells exchanged with 1000-1500 cc whole blood during phlebotomy at 28 weeks' gestation and again prior to term. Thirty-six consecutive pregnant patients with sickle cell anemia have been managed in this fashion. The one maternal mortality occurred in a patient who did not complete the protocol. Major maternal morbidity and perinatal wastage rates were significantly decreased. Two cases of serum hepatitis occurred. It appears from these data that the use of prophylactic partial exchange transfusion in pregnant patients with severe sickle cell hemoglobinopathies can be of benefit. Further trials of this method seem justified by these results to assess completely the benefit-risk ratio of this procedure.
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PMID:The use of prophylactic partial exchange tranfusion in pregnancies associated with sickle cell hemoglobinopathies. 98 Feb 80

During the period of 1978 to 1986, 66 patients (31 men, 35 women) with a mean age of 28.4 years and various sickle cell hemoglobinopathies underwent 82 surgical procedures; 28 were emergencies. Fifty of the 66 patients had HbSS, 13/66 had HbSC, and 3/66 had HbS-thalassemia. All 66 patients received transfusions, although not for all procedures. In 48 patients, transfusion therapy was only administered preoperatively. Simple transfusions (1 to 10 units) were administered in 31 of 48 procedures. Exchange transfusions (1 to 6 units) were performed in nine of 48 procedures. Preoperative hematocrit ranged from 7.0% to 54.2%; of those receiving transfusions the hematocrit ranged from 22.6% to 53.7%. Intraoperative transfusions (1 to 10 units) were performed in 14 of 82 procedures; postoperative transfusions (1 to 6 units) were performed in 13 of 82 procedures. No advantage was noted in preoperative exchange transfusion as measured by a decrease in postoperative complications; a slight increase was seen in atelectasis in this group of patients with preoperative transfusions. An increase was reported in the complication rate of patients with an hematocrit of less than 30%. The type of transfusion (preoperative, intraoperative, or postoperative) administered did not appear to be related to postoperative morbidity rates. The complication rate for simple transfusions was 51.6% and for multiple transfusions, 55.6%. HbSS hemoglobinopathy had the higher complication rate. The hepatitis B surface antigen was demonstrated in four of 66 (6.1%) patients; ten of 66 (15.2%) developed alloantibodies. The benefits of transfusion therapy should be judged according to clinical needs; not all sickle cell patients need exchange or preoperative transfusion.
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PMID:Assessment of the use of transfusion therapy perioperatively in patients with sickle cell hemoglobinopathies. 335 66

Although 50% of Indochinese refugees are under 18 years of age, previous studies have emphasized the prevalence of parasites, anemia, tuberculosis, and hepatitis, with few addressing age-related health care needs. In this study the specific health care needs of 80 Indochinese refugee teenagers, evaluated during a 4-year period, were determined. The Centers for Disease Control's suggested screening measures were used, and it was found that 52% had positive purified protein derivative skin tests, 38% lacked immunizations, 35% had stool specimens positive for parasites (prevalence and number of parasites greatest among Cambodians), 14% had blood tests positive for hepatitis B surface antigen, and 10% were anemic. Additional evaluations showed that 19% had hemoglobinopathies, 14% were in or below the fifth percentile for height and weight, 12% had goiters, 12% had skin disorders, 8% had positive hepatitis B surface antigen, 5% had visual defects, 5% had hearing loss, 5% had psychosomatic illness, and 4% had idiopathic scoliosis. Although suggested Centers for Disease Control screening measures may be adequate for younger Indochinese children, these data suggest that additional studies are necessary for teenagers. For the sexually active adolescent, identification of and counseling for hepatitis antigenemia and hemoglobinopathies are crucial. In addition, early identification of emotional and physical problems during screening may enhance assimilation into a new society and facilitate completion of the psychosocial tasks of adolescence.
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PMID:Health care needs of Indochinese refugee teenagers. 379 58

Most pathologic studies of liver disease in sickle cell anemia and its variants were performed retrospectively on autopsy specimens, and, because of the prominent histologic features of intrasinusoidal sickling and Kupffer cell erythrophagocytosis, hepatic dysfunction was attributed to the intrahepatic sickling of erythrocytes in this hemoglobinopathy. We compared the liver histology from 19 patients who had liver biopsies to the autopsy specimens from 32 patients who succumbed to the complications of the hemoglobinopathy. In the former, nine patients had histological evidence of viral hepatitis. Four of these patients had both serological and immunohistochemical evidence of hepatitis B surface antigen. The features of biliary tree obstruction were found in two cases and alcoholic cirrhosis and sarcoid granuloma in one case each. Only one patient, who had recovered from septic shock, showed ischemic necrosis. In five patients incidentally biopsied during cholecystectomy, no significant lesions were found. Fourteen of the autopsy specimens showed ischemic necrosis, a result which was significantly different from the biopsy group. Ten cases had no significant morphologic changes other than heavy iron deposits. There were two cases with chronic active hepatitis, two with diffuse fibrosis, and one case each of cirrhosis, acute viral hepatitis, cholestasis, and giant cell hepatitis. Intrahepatic sickling and erythrophagocytosis were seen in almost all specimens and did not correlate with liver disease or transaminase elevation. Other than the patient with septic shock, ischemic necrosis was found only in postmortem material. These histological features may represent red cell destruction rather than the etiology of liver disease in these patients.
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PMID:Pathological spectrum of liver diseases in sickle cell disease. 394 29

In an effort to clarify the features of hepatic dysfunction in sickle cell disease, we obtained serial tests of liver function in 100 consecutive patients with sickle cell anemia and in 30 consecutive patients with hemoglobinopathy SC during a five-year period. There were 32 patients with chronic abnormalities in tests of liver function. These abnormal tests were explained by a variety of lesions in 30 cases, and the liver disease remained unexplained in only 2 patients who declined liver biopsy. The diagnoses in these 30 patients included hepatitis, chronic passive congestion, common duct obstruction, alcoholic liver disease, pregnancy, collagen-vascular disease, and sarcoidosis. Evidence for hepatitis B infection was present in 19 of those with sickle cell anemia and in 6 of those with hemoglobinopathy SC. The bilirubin levels in sickle cell anemia appeared to have a trimodal distribution, with six patients exhibiting markedly elevated levels of indirect bilirubin suggesting a difference in bilirubin metabolism. There was no evidence of liver disease in 72 patients with sickle cell anemia, nor in 24 patients with hemoglobinopathy SC, as these patients exhibited only mild elevation of their serum indirect bilirubin levels owing to chronic hemolysis. Intrasinusoidal sickling and Kupffer cell erythrophagocytosis were nearly universal findings at liver biopsy, irrespective of the clinical disorder, and were not related to the degree of liver test abnormalities. Liver and biliary tract dysfunction in sickle cell disease have been attributed to anoxia secondary to sinusoidal obstruction by sickled erythrocytes and Kupffer cell erythrophagocytosis. However, some causes of liver disease in sickle cell patients can be explained by clinical disorders other than the hemoglobinopathy alone.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Liver involvement in sickle cell disease. 403 12

These clinical practice guidelines set forth a comprehensive program for identifying, diagnosing, and treating newborns and infants with sickle cell disease and recommend education and counseling strategies for their parents. Sickle cell disease comprises a group of genetic disorders characterized by the production of hemoglobin S, anemia, and acute and chronic tissue damage secondary to the blockage of blood flow by abnormally shaped red cells. Sickle cell anemia is the most common form of the disease, and it affects approximately 1 in 375 African-American infants. Although in the United States sickle cell disease is most commonly found in persons of African ancestry, it also affects other populations. The panel recommends screening of all newborns for sickle cell disease, since targeting specific groups will miss some infected infants. Samples of dried blood on filter paper or liquid blood samples should be used for hemoglobinopathy screening. Hemoglobin electrophoresis, isoelectric focusing, and high performance liquid chromatography are acceptable, reliable, and accurate testing methods. Infants identified on initial screening must be retested to establish a definitive diagnosis. Affected infants must be given twice-daily oral penicillin beginning at 2 months of age to reduce pneumococcal, conjugated Haemophilus influenzae, and hepatitis B vaccines. Infants with sickle cell disease require the same well-child care as infants without the disease. Education and nondirective genetic counseling should be offered to all parents of infants with sickle cell disease. The guidelines stress the need for a comprehensive and fully integrated approach to reduce morbidity and mortality from sickle cell disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Update: new guidelines for the treatment of infants with sickle cell disease. Agency for Health Care Policy and Research. 827 35

There is an increased attention to preconception care and counseling (PCC) in the US. Midwives should include it into their practice. Even though the PCC concept is new, many midwives already know and/or practice its components, including risk assessment, health promotion, psychological and medical interventions, and follow-up. Opportunities for PCC are gynecology visits, postpartum visits, school-based programs, occupational health centers, and local health departments. Midwives can help women decide whether they are psychologically prepared for motherhood through group discussions and family-timing scenarios. They should refer women to substance abuse counseling and address physical abuse. A medical history and physical exam followed by an evaluation of any medical problems are also important. Preconception screening should include laboratory tests for hemoglobin or hematocrit, Rh factor, rubella titer, urine dipstick (protein and sugar), Pap smear, gonococcal culture, syphilis ...... and hepatitis B test. Midwives should offer women an illicit drug screen and an HIV serodiagnostic test. Additional tests recommended for some women include a tuberculosis screen, chlamydia culture or rapid screen, toxoplasmosis, herpes simplex, cytomegalovirus, varicella, hemoglobinopathies, Tay-Sachs, and karyotype. Factors which may affect sperm morphology are cigarette smoking, alcohol drinking, vitamins A and E, linoleic acid, and zinc. Other male factors which may affect pregnancy outcome are advanced age, sexually transmitted diseases, HIV, and exposure to drugs and chemicals. Midwives should determine the need to refer women for genetic counseling. They can help establish a positive environment for conception by conducting a nutritional history and counseling; promoting vitamin supplementation; by counseling about dangers of cigarette smoking, alcohol drinking, and drugs; and by keeping up to date on reproductive toxicology, environmental pollutants, and occupational hazards. Midwives should take a menstrual, contraceptive, and sexual history. Menstrual charting can help detect ovulation. Other issues needing to be addressed are infertility and choosing a care provider and birth place.
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PMID:Preconception care. An opportunity to maximize health in pregnancy. 841 Mar 47

Foreign adopted children and children of asylum applicants and refugees, newly arrived in Denmark, often have lived under conditions that make the following diagnostic considerations relevant: scabies, lice, impetigo and fungal skin infections, nutritional iron deficiency or bleeding, anaemia caused by hook worms in the gastrointestinal tract, malaria, tuberculosis, hepatitis B, HIV infection and various intestinal parasites. Haemoglobinopathies including sickle cell anaemia and talassaemia should also be kept in mind in anaemia. Immigrant children are admitted to hospital approximately twice as frequently as Danish children but with the same diagnoses apart from some increased frequency of psychological and behavioural disturbances and talassaemia.
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PMID:[Diseases among refugee and immigrant children]. 1110 68

Reverse allele specific oligonucleotide assays provide a robust method for the molecular characterization of high-mutation spectrum disorders. Commercial test have been developed for human leukocyte antigens class I and class II regions of human chromosome 6, the cystic fibrosis transmembrane conductance regulator at 7q31 and strains of human Hepatitis B and C virus. In their most developed form, these assays rely upon highly multiplexed PCR reactions containing biotinylated primers providing a substrate for nonradioactive detection systems. Sophisticated reverse dot-blot technology involves mechanized covalent attachment of activated primary amine-conjugated oligonucleotides to carboxylated nylon membranes or bovine serum albumin. Subsequent to line or dot printing, membranes are stored or sold dry in preparation for hybridization. Circular spots or lines are visualized colorimetrically after hybridization through the use of streptavidin horseradish peroxidase incubation followed by development using tetramethylbenzidine and hydrogen peroxide, or via chemiluminescence after incubation with avidin alkaline phosphatase conjugate and a luminous substrate susceptible to enzyme activation, such as CSPD, followed by exposure to x-ray film. The entire procedure from blood specimen receipt to result usually requires less than 1 day. Because of the simplicity, speed, and generally high sensitivity and specificity, large numbers of individuals can be rapidly screened using this technology. Rapid turnaround is often required in prenatal diagnosis of cystic fibrosis, beta-thalassemia and hemoglobinopathies, giving this technology has special applicability in those genetic diseases. Commercial instruments are available which automate the hybridization and color development. In addition, scanning software can capture the probe reactivity pattern and interpret it in terms of a genotype.
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PMID:Origin and utility of the reverse dot-blot. 1264 92


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