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)

Vaccine-induced levels of antibody to Streptococcus pneumoniae of approximately 250-300 ng of antibody nitrogen/ml are protective against pneumococcal disease. Side effects of vaccination are not severe and are generally confined to local reactions at the site of inoculation. Patients with a documented high risk of acquiring pneumococcal disease include the elderly, especially those with underlying cardiopulmonary disease, and those with sickle cell anemia, Hodgkin's disease, a renal transplant, multiple myeloma, asplenia, and nephrotic syndrome. People with insulin-dependent diabetes mellitus or renal failure do not appear to be at high risk. All of these groups, except those with multiple myeloma, respond to vaccine with levels of antibody that are protective for many but not all of the serotypes included in the vaccine. Immunosuppression, splenectomy, and hemoglobinopathy depress antibody response. Duration of vaccine-induced antibody is unknown but may be shorter than that in normal persons. Preliminary guidelines for vaccination are proposed.
 ...
PMID:Assessment of the antibody response to pneumococcal vaccine in high-risk populations. 702 58

Dissociation curves for oxygen of dilute samples of human adult Hb-A were evaluated on this occasion, by using the Oximeter-539 WTW with its sensor, and a suitable spectrophotometer. At this purpose, Hb samples were desaturated in oxygen upon given experimental conditions, by bubbling pure nitrogen in them, and their re-oxigenation in air was followed, step by step, by multiple oximetries. In addition, all the spectrophotometric measurements of the saturation of Hb-O2%, corresponding to each individual oximetry, were carried out parallely but separately. Dilution of Hb-A was maintained at 0.1 mM in heme. The p50 at pH 7.3 was 4.435 +/- 0.299 Torr, with the n-value of 2.7 +/- 0.2; Bohr effect was -0.55 +/- 0.08, within a pH range between 6.8, 7.3 and 7.8, whereas chloride and DPG effects at pH 7.3 (the most useful value) were 0.42 +/- 0.44 and 0.453 +/- 0.0187 respectively. In conclusion, these results are similar to those obtained with automated procedures, upon comparable experimental conditions, but do not require expensive and sophisticated instruments. Such a technique could be very useful in the hemoglobinopathies, which are common in Italy, and it could be easily adapted to perform comparative studies on animal hemoglobins not far from human species.
 ...
PMID:Use of the Oximeter-539 WTW, equipped with a sensor Trioxmatic-300, for the functional analysis of dilute solutions of human Hb-A. 923 Jun 28

We performed pulmonary function testing in 20 infants (11 male and 9 female; ages 3-30 months) with sickle cell disease to assess whether abnormal lung function develops early in life. Respiratory system compliance (Crs) and resistance (Rrs) were measured by the passive occlusion technique, functional residual capacity (FRC) was measured by the nitrogen washout technique, and tidal flow-volume loops and partial expiratory flow-volume curves were obtained by the thoracoabdominal compression technique to detect airway obstruction. Patients with Hb SS (Group I, n = 12) had significantly lower hemoglobin levels and a higher (but not significant) incidence of acute chest syndrome (ACS), vasoocclusive crisis (VOC), splenic sequestration, transfusions, and history of intermittent bronchospasm compared to with patients with hemoglobinopathies Hb SC, Hb Sbt and Hb SF (Group II; n = 8). Both groups had elevated FRC, decreased maximum expiratory flows at FRC (V'max,FRC), and decreased time needed to reach peak expiratory flow (tme/tE), suggesting lower airway obstruction (LAO) and hyperinflation. Restrictive disease was found in only three patients of Group I. Our findings suggest that in sickle cell disease (especially among patients with Hb SS), abnormal lung function (predominantly LAO) may be present in early infancy. Airway reactivity may play a role in the pathogenesis, but the relation to VOC or ACS remains unclear.
 ...
PMID:Lung function in infants with sickle cell disease. 936 61

Hemoglobin consists of four globin chains linked by 4 hem molecules. Differences between hemoglobin species are due to dissimilarity of amino acid sequence in globin chains accounting for different solubility, affinity to oxygen, and interaction with nitrogen. The hem component is the same in all hemoglobins. Anomalous activity of hem-synthesizing enzymes leads to porphyria. The number of molecular defects associated with porphyria has recently increased which necessitated improvement of diagnostic and therapeutic methods. Factors promoting hemoglobin synthesis in patients with hemoglobinopathies may be used to alleviate symptoms of the disease. Measurement of hemoglobin in premature newborns helps to estimate their oxygen status and minimize the risk of toxic oxygen action. Porphyrias and hemoglobinopathies must be end-points of differential diagnosis. Modern techniques allow for earlier diagnosis of disturbed hemoglobin synthesis and improvement of relevant therapeutic strategies.
 ...
PMID:[Clinical significance of ontogenetic abnormalities of hemoglobin synthesis]. 2110 64