J Pediatr Hematol Oncol
January 2003
Unlabelled: PURPOSE Few studies address the association of Chlamydia pneumoniae infection with pulmonary disease and outcome in patients with underlying pathology such as sickle cell disease (SCD). SCD patients are susceptible to the pulmonary disorder known as acute chest syndrome (ACS), where the etiology remains ill defined. The purpose of this study was to analyze the clinical course and outcome of C.
View Article and Find Full Text PDFAm J Pediatr Hematol Oncol
February 1993
Purpose: Recombinant human granulocyte-macrophage colony stimulating factor (GM-CSF) was administered to two patients with glycogen storage disease, type 1b (GSD-1b), with chronic neutropenia, neutrophil dysfunction, and recurrent infections in an effort to increase neutrophil counts and increase resistance to infections.
Patients And Methods: The patients' baseline absolute neutrophil counts (ANC) ranged from 56 to 480 cells/mm3 despite increased granulocyte precursors in the bone marrow. GM-CSF was given s.
Diagnostic tests for most common hemoglobinopathies and recent advances in structural analysis of variant hemoglobins are reviewed. Routine and newly introduced methods that apply to the diagnosis of sickle cell anemia, thalassemia and the hemoglobin E disorders are presented. A brief description of the clinical course for each of these disorders is given, and potential pitfalls in diagnosis are discussed.
View Article and Find Full Text PDFElectrophoretic techniques are used for hemoglobinopathy diagnosis. Confirmation of the hemoglobin variants is necessary. Currently, citrate agar electrophoresis is the most available, but high performance liquid chromatography is highly recommended in a reference laboratory.
View Article and Find Full Text PDFDetails are given of a study of blood samples from 24 patients with Hb H disease from different Mediterranean countries and from the Far East. Four different types of alpha-thal-1 (--) were observed, namely -(alpha) (approximately 20.5-kb deletion); --MED-I (approximately 17.
View Article and Find Full Text PDFDetails are presented of analyses of hemoglobins in blood samples from four newborn babies with hydrops fetalis using reversed phase and anion exchange high performance liquid chromatographic methodology. Three were homozygous for the alpha-thalassemia-1 (SEA) deletion, and one was a compound heterozygote for the same deletion and the larger alpha-thalassemia-1 (Fil) deletion. All four babies had beta, G gamma, A gamma, and zeta chains; these chains were present in Hb Bart's or gamma 4, Hb Portland-I (zeta 2 gamma 2), and Hb Portland-II (zeta 2 beta 2).
View Article and Find Full Text PDFNewborn screening for sickle cell disease has been recommended as a method of decreasing patient mortality. However, its effectiveness in accomplishing this has not been reliably measured. To help determine the effectiveness, 10 years of experience in newborn screening have been summarized.
View Article and Find Full Text PDFThe effect of increased nutritional intake was evaluated in 5 growth-retarded children with sickle-cell disease. Growth on recommended daily calorie and protein intakes had been inadequate in all 5. Fat absorption and intestinal mucosal morphology were normal in all 5.
View Article and Find Full Text PDFDimethyl adipimidate, a bifunctional imidoester, is an effective inhibitor of sickling in vitro. We determined the reaction conditions necessary to inhibit sickling without impairing cell deformability. Although imidoesters are routinely used at alkaline pH, we found that reaction of red blood cells with dimethyl adipimidate at pH 8.
View Article and Find Full Text PDFAn increase in hemoglobin concentration characterizes the normal compensatory response to chronic tissue hypoxia. We observed no such increase in 42 chronically hypoxic patients with cystic fibrosis, in whom the mean concentration was 12.6 gm/dl; one third of the patients were anemic.
View Article and Find Full Text PDFHematologic evaluations of 254 Southeast Asian refugee children from 163 families are reported. Hemoglobin E trait was common in Cambodians (19%) and Laotians (18%), but rare in Vietnamese (1%). beta-Thalassemia trait was most prevalent in Vietnamese (8%), and less common in Cambodians and Laotians (3%).
View Article and Find Full Text PDFWe studied 47 patients with sickle-cell anemia to determine the effect of alpha-thalassemia on the severity of their hemolytic anemia. We diagnosed alpha-thalassemia objectively by using alpha-globin-gene mapping to detect alpha-globin-gene deletions, studying 25 subjects with the normal four alpha-globin-genes, 18 with three, and four with two. The mean hemoglobin, hematocrit, and absolute reticulocyte levels (+/- S.
View Article and Find Full Text PDFIn summary, we propose the following scheme (Figure 5) to describe the role of peroxidation in the pathophysiology of SCA. Sickle erythrocytes are more susceptible to peroxidation than are normal erythrocytes. This increased susceptibility to peroxidation is, in part, due to decreased blood vitamin E levels and abnormal membrane phospholipid organization induced by sickling.
View Article and Find Full Text PDFWe determined the prevalence and optimal methods for laboratory diagnosis of iron deficiency anemia in patients with sickle cell disease. Laboratory investigations of 38 nontransfused and 32 transfused patients included transferrin saturation, serum ferritin, mean corpuscular volume (MCV), and free erythrocyte protoporphyrin (FEP). Response to iron supplementation confirmed the diagnosis of iron deficiency anemia in 16% of the nontransfused patients.
View Article and Find Full Text PDFHemoglobin variants can be successfully identified in cord blood samples. The methods most commonly used include cellulose acetate (CAC) and citrate agar (CAG) electrophoresis. Recently thin layer isoelectric focusing (TLIF) has been shown to be an excellent method for identifying hemoglobin variants.
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