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

Out of 104 patients with microcytosis (MCV less than 80 fl), 69% had an iron deficiency, 21% a chronic disease and 10% hemoglobinopathy or thalassemia trait. The absence of bone marrow iron stores or the response to iron supplementation were used to establish the diagnosis iron deficiency. On the basis of sensitivity (90%) and specificity (100%), the serum ferritin concentration is more suitable for assessment of iron deficiency than the serum iron concentration, the total iron-binding capacity or the percentual saturation of transferrin. The red cell distribution width (RDW) is the parameter with the highest sensitivity for iron deficiency (94%). An RDW value within the reference interval can be used to exclude iron deficiency in those cases in which the serum ferritin concentration does not accurately reflect the iron stores owing to severe tissue damage, as in inflammation or malignancy.
 ...
PMID:Evaluation of microcytosis using serum ferritin and red blood cell distribution width. 231 92

Clinical chemistry is going through an identity crisis, squeezed between automation (de-skilling) on the service side and molecular genetics in research. Automated routine estimations are now carried out and interpreted by machines; the skilled staff members required are more likely to have degrees in electronics than medicine or biochemistry. The role of molecular genetics is more ambiguous; it is inherently reductionist, in that it attempts to explain most clinical phenomena in terms of DNA sequence alone. This has been remarkably successful for single-gene defects (such as those causing Duchenne muscular dystrophy, hemoglobinopathies, cystic fibrosis, and ataxias) and may well prove equally so for Alzheimer's disease, cancer, heart disease, and schizophrenia. DNA diagnosis is not yet routine, but because of technical advances such as gene amplification ("PCR") and high-sensitivity gene-detection assays, it may soon become so, not only in major centers but also in local pathology laboratories and general practice. Clinical chemists must decide whether they wish to respond to this new and stimulating challenge by retooling and retraining. Should anyone be permitted into clinical chemistry during the 1990s without knowledge of both electronics and molecular genetics? Will there be a clinical chemistry in the twenty-first century other than through molecular genetics? This article is a personal response to these questions.
 ...
PMID:Molecular genetics and the transformation of clinical chemistry. 233 3

The light-microscope finding of red cell membrane fragments in the form of long filamentous processes and myelin bodies in the blood smears of a patient with sickle cell anemia has recently been described. This phenomenon has been termed erythrocytic ecdysis. We examined the blood smears of all sickle cell anemia patients admitted to the Cook County Hospital and those attending the hemoglobinopathy clinic between October 1979 and December 1981. Nine instances of erythrocytic ecdysis were uncovered. Associated clinical conditions included congestive heart failure, acute viral syndrome, pneumonia, and metastatic malignancy. Transient ecdysis associated with congestive heart failure was noted for one patient during two separate admissions one year apart. Ecdysis is a transient form of erythrocytic fragmentation occurring in sickle cell anemia. Its pathogenesis is unknown. The role of regional circulatory stasis and hypoxia in the induction of erythrocyte membrane damage in sickle cell anemia needs investigation.
 ...
PMID:Erythrocytic ecdysis in smears of EDTA venous blood in eight patients with sickle cell anemia. 311 41

Hematologic malignancy has rarely been reported in adults with sickle cell disease. We describe four sickle cell patients (two with hemoglobin SC, two with hemoglobin SS) who developed hematologic malignancy (acute myeloblastic leukemia, multiple myeloma, malignant histiocytosis, and Hodgkin's disease). Three of the cases represent the first adult association between SC or SS hemoglobinopathy and the particular malignancy involved. Sickle hemoglobin does not appear to exert a protective effect against childhood hematologic malignancies, suggesting that better survival in sickle cell disease may be accompanied by an increased incidence of hematologic neoplasms in adulthood. Karyotypic analysis revealed alterations of chromosome 5 in two sickle cell patients with leukemia, raising the possibility of a chromosomal link between the two diseases. Further epidemiologic and cytogenetic studies are needed to define the relationship between hematologic malignancy and sickle cell disease.
 ...
PMID:Hematologic malignancy in sickle cell disease: report of four cases and review of the literature. 345 91

Bone marrow transplantation is increasingly used to treat a spectrum of diseases in man, including immune and genetic disorders, hematological diseases, and cancer. Approximately 11,000 transplants have been performed worldwide since 1970. About two-thirds of these transplants have involved donors, including related and unrelated individuals, and in the remaining third the patient's bone marrow has been used in the form of an autotransplant. In some disorders and under carefully defined circumstances, bone marrow transplantation appears to be the preferred therapy; these diseases include aplastic anemia, acute myelogenous leukemia, acute lymphoblastic leukemia, chronic myelogenous leukemia, and selected immune and genetic disorders. In other circumstances, the value of bone marrow transplantation is less well defined. Diseases in which bone marrow transplantation may be of benefit include Hodgkin's and non-Hodgkin's lymphoma, other cancers, thalassemia, hemoglobinopathies, genetic disorders, and possibly multiple myeloma. It has been difficult to precisely identify the role of bone marrow transplantation in many of these diseases. Prospective randomized controlled clinical trials have sometimes shown an advantage for bone marrow transplantation, but in most circumstances a benefit is as yet unproven. In the U.S. the annual incidence of individuals with diseases in which bone marrow transplantation is thought to be of proven benefit is approximately 5,400, and an additional 15,000 individuals annually have diseases in which bone marrow transplantation is thought to be of possible benefit. This study reviews data available from both controlled and uncontrolled clinical trials indicating the potential role of bone marrow transplantation in the treatment of human diseases.
 ...
PMID:Clinical trials of bone marrow transplantation. 352 45

A case of non-Hodgkin's lymphoma with leukemic spread in a patient affected with homozygous sickle cell disease is reported. This association has not been previously described. A correlation between the malignancy and the hemoglobinopathy could not be etiologically ascertained; therefore, an alternative explanation to a chance event cannot be offered.
 ...
PMID:Non-Hodgkin's lymphoma associated with sickle cell disease: a case report. 368 85

The uses of available record systems in epidemiologic studies of reproductive toxicology are described with reference to New York State. The available record systems (and relevant reproductive end points) described include a newborn screening program for metabolic diseases and hemoglobinopathies (relevant to point mutations); chromosome registries and prenatal cytogenetics (for chromosome anomalies); live birth certificates (for birth defects, birthweight, sex ratio, etc); fetal death certificates (for spontaneous fetal deaths); and a statewide cancer registry (for childhood cancers and transplacental carcinogenesis). The uses and limitations of these record systems are discussed, along with examples of their use in descriptive and analytic epidemiologic studies. Descriptive studies outlined include investigations of temporal and geographic trends in birth defects, birthweight, and fetal deaths, with reference to environmental questions (Love Canal, nuclear power plants). Analytic studies described concern parental occupation in relation to specific birth defects (neural tube defects and Down syndrome) and maternal use of contraceptives.
 ...
PMID:Uses of available record systems in epidemiologic studies of reproductive toxicology. 622 Jun 2

The study of 76 Leporian families with 214 heterozygous, 9 homozygous, and 12 combinations with different type of thalassemia has allowed the authors to discuss three points: (1) The homozygous condition for Hb Lepore was until now found only in 19 people worldwide. The affirmation that this state is always similar to classic Cooley's anemia cannot be confirmed by us because the majority of our patients did not have a very severe anemia and they are still alive and in a fairly good condition. Splenectomy is always useful. In two of our patients it was found that the ratios between delta + beta and alpha mRNA agreed well with the delta beta/alpha chain biosynthetic ratio. (2) Two new forms of combined Leporian conditions were investigated. These are the combinations of Hb Lepore with delta beta thalassemia and a variant of beta thalassemia, namely, the isolated-high-Hb-A2 beta thalassemia. Both diseases present the same Hb pattern as that of homozygous Hb Lepore. Both presented a mild course also. (3) The multiform and very large experience (more than 5000 cases of genotypical hemoglobinopathies observed in the last 20 years) led us to observe that in carriers of Hb Lepore there was frequently the concomitance of malignancies, especially hemolymphoblastoses. In fact, the risk of such malignancies in the Hb Lepore carriers is 10 times higher than for thalassemics. The explanation of this finding is uncertain. It is possible, however, that the peculiar abnormality of Hb Lepore may be related to malignancy.
 ...
PMID:New clinical and biochemical findings from 235 patients with hemoglobin Lepore. 693 Aug 76

Fourteen cases of splenic abscess are reported and 159 cases previously cited in the literature are reviewed. The incidence, predisposing factors, pathogenesis, clinical features, bacteriology and radiologic findings are discussed. Infective endocarditis was the most common single antecedent infection. Hemoglobinopathies, non-penetrating abdominal trauma, and gastrointestinal malignancy appear to predispose the spleen to abscess formation. Emphasis is placed on clinical features and radiologic findings to aid practitioners in diagnosing this uncommon but often fatal infection. Also emphasized is the necessity for prompt surgical intervention when splenic abscess is suspected. An approach to the antimicrobial therapy in different clinical settings is outlined.
 ...
PMID:Splenic abscess. 698 9

The prevelance of IDA in industrialized countries has declined in recent decades, but there has been little change in the worldwide prevalence. IDA is currently estimated to affect more than 500 million people. Recent studies have indicated that anemia per se, the most common manifestation of iron deficiency, is less important from a public health standpoint than liabilities associated with tissue iron deficiency. The most important of the latter are an impairment in psychomotor development and cognitive function in infants and preschoolers, a deficit in work performance in adults, and an increase in the frequency of low birth weight, prematurity, and perinatal mortality in pregnancy. There have been several recent advances in combatting nutritional iron deficiency. One of the major problems has been in distinguishing iron deficiency from other causes of anemia seen epidemiologically such as malaria, HIV infection, chronic inflammation, hemoglobinopathies, and protein energy malnutrition. When combined with serum ferritin and hemoglobin determinations, the serum transferrin receptor assay is a valuable addition in epidemiologic surveys because it provides a quantitative measure of functional iron deficiency and it distinguishes true IDA from the anemia of chronic disease. The most difficult challenge is to develop effective methods of supplying iron to large segments of a population. Supplementation with iron tablets is suitable for only brief periods of need such as during pregnancy. The poor compliance with existing supplementation programs is believed to be due mainly to the gastrointestinal side effects of oral iron which can be eliminated by the use of a gastric delivery system. The most effective long-term strategy is to increase the intake of bioavailable iron in the diet. The customary approach has been to fortify a food staple such as wheat, rice, sugar, or salt, and thereby increase the iron intake of the entire population. However, because of concerns about the risk of cancer and heart disease in individuals with high iron stores, there is an increasing reluctance to supply iron to individuals who do not require it. A more effective strategy is to fortify food vehicles that are targeted to segments of the population at greatest risk of iron deficiency such as infants and school children. Because of the strong inhibitory properties of diets in regions of the world where iron deficiency is most prevalent, the use of NaFeEDTA has important advantages for food fortification.
 ...
PMID:Iron deficiency: the global perspective. 788 26


1 2 3 4 5 6 7 8 9 10 Next >>