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Internal Medicine (Tokyo, Japan) Nov 1993Three subjects in a family with microcytic and hypochromic anemia were studied; red blood cell morphology indicated aniso-poikilocytosis and hypochromasia. Target and...
Three subjects in a family with microcytic and hypochromic anemia were studied; red blood cell morphology indicated aniso-poikilocytosis and hypochromasia. Target and tear-drop cells were also noted. In all three cases evaluated, there was an increase in HbA2 levels and a decline in the beta/alpha synthesis ratio. Direct cloning and DNA sequencing identified a point mutation (G-->T) at position 1 of intervening sequence I. The resulting reduction of beta-globin chain synthesis is considered to give rise to beta 0-thalassemia phenotype. This point mutation is to our knowledge, the first case in Japan.
Topics: Base Sequence; DNA; Female; Globins; Heterozygote; Humans; Introns; Japan; Male; Middle Aged; Molecular Sequence Data; Pedigree; Point Mutation; RNA Splicing; beta-Thalassemia
PubMed: 8012089
DOI: 10.2169/internalmedicine.32.865 -
Medical Archives (Sarajevo, Bosnia and... Apr 2017Various studies confirm the biocompatibility and efficacy of clips for certain target tissues, but without any comparative analysis of hematological parameters....
INTRODUCTION
Various studies confirm the biocompatibility and efficacy of clips for certain target tissues, but without any comparative analysis of hematological parameters. Therefore, we conducted a study to assess the possible association of the implantation of titanium and plastic clips in the neurocranium with possible morphological changes in the blood cells of experimental animals.
MATERIALS AND METHODS
As a control, the peripheral blood smears were taken before surgery from 12 adult dogs that were divided into two experimental groups. After placing titanium and plastic clips in the neurocranium, the peripheral blood of the first group was analyzed on the seventh postoperative day, while the peripheral blood of the second group was analyzed on the sixtieth day. By microscopy of the blood smears, the following parameters were analyzed: the presence of poikilocytosis of the red blood cells, degenerative changes in the leukocytes and leukogram.
RESULTS
There were no statistically significant differences between the mean values of the groups. Monocytosis was detected (first group 22.83 % and second 16.30 %), as well as neutropenia (46.80 %, in the second group). Degenerative changes to neutrophils and the occurrence of atypical lymphocytes were observed in the second experimental group (60 postoperative day).
CONCLUSION
A mild adverse effect from the biomaterials present in the neurocranium of dogs was detected, affecting the majority of leukocytic cells. A chronic recurrent inflammatory process was caused by the presence of the plastic and titanium clips in the brain tissue. No adverse effect of biomaterials on erythrocytes in the neurocranium was detected in the dogs studied. Further studies are necessary to explain the occurrence of degenerative changes in the neutrophils and lymphocytes.
Topics: Animals; Blood Cells; Dogs; Erythrocytes, Abnormal; Leukocytosis; Monocytes; Neutropenia; Plastics; Skull; Surgical Instruments; Titanium
PubMed: 28790535
DOI: 10.5455/medarh.2017.71.84-88 -
Japanese Journal of Medicine 1990We studied a patient with severe anemia and jaundice who exhibited a high hemoglobin A1 (HbA1) level secondary to an increase in HbF despite normal glucose tolerance....
We studied a patient with severe anemia and jaundice who exhibited a high hemoglobin A1 (HbA1) level secondary to an increase in HbF despite normal glucose tolerance. The red blood cells showed anisocytosis, poikilocytosis and polychromasia; target cells, Howell-Jolly bodies, Heints bodies and punctate basophilia were observed. No defect or reduction in activity was observed in 19 red cell enzymes. A family history of similar anemia in the patient's daughter and cousins on the mother's side indicated an involvement of genetic factors. Gene cloning and DNA analysis showed that the condition is a new type of beta 0-thalassemia caused by a nonsense mutation (GAG----TAG) in codon 90 of the beta-globin gene.
Topics: Adult; Base Composition; Base Sequence; Codon; Erythrocytes; Female; Globins; Hemoglobin A; Humans; Jaundice; Male; Molecular Sequence Data; Mutation; Pedigree; Thalassemia
PubMed: 2214342
DOI: 10.2169/internalmedicine1962.29.2 -
The Journal of Clinical Investigation Sep 1990alpha I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association of spectrin dimers and an abnormal proteolytic...
alpha I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association of spectrin dimers and an abnormal proteolytic cleavage of the alpha I domain of spectrin. We studied a family in which the proband presented with a severe neonatal hemolytic anemia with poikilocytosis. Biochemical analysis of erythrocytes from the proband and his family members allowed us to ascertain a diagnosis of homozygosity for alpha I/74 HE in the proband and heterozygosity in his parents and several of their offspring. Results of polymorphism linkage analysis suggested that the defect in this family was located in beta rather than alpha spectrin. We analyzed the 3' end of the beta-spectrin gene of the proband and detected a mutation that changes a codon for alanine to one for proline. Allele-specific oligomer hybridization on slot blots of DNA from other family members confirmed the presence of the mutation only in members heterozygous for the disorder. This is the first example of a point mutation in the beta-spectrin chain that is associated with defective spectrin dimer self-association and an abnormal proteolytic cleavage of the alpha chain. Based on this finding, we propose a model for the mechanism of interaction between the alpha- and beta-spectrin chains.
Topics: Amino Acid Sequence; Base Sequence; Electrophoresis, Gel, Two-Dimensional; Elliptocytosis, Hereditary; Genetic Linkage; Humans; Macromolecular Substances; Molecular Sequence Data; Mutation; Oligonucleotides; Pedigree; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Protein Conformation; Restriction Mapping; Spectrin
PubMed: 1975598
DOI: 10.1172/JCI114792 -
The Journal of Clinical Investigation Mar 1987Hemoglobin Mississippi (HbMS: beta 44ser----cys) has anomalous properties that include disulfide linkages with normal beta-, delta-, gamma-, and alpha-chains, and the...
Hemoglobin Mississippi (HbMS: beta 44ser----cys) has anomalous properties that include disulfide linkages with normal beta-, delta-, gamma-, and alpha-chains, and the formation of high molecular weight multimers. While heterozygotes for HbMS are clinically and hematologically normal and carriers of the beta +-thalassemia gene in our family had mild microcytic anemia, the proband with HbMS-beta +-thalassemia had a hemoglobin level of 7 g/dl, mean corpuscular volume (MCV) of 68 fl, reticulocytes of 2-6%, HbF of 18%, marked anisocytosis and poikilocytosis, and splenomegaly, all features of thalassemia intermedia. With oxidant stress, her erythrocytes developed multiple dispersed Heinz bodies, but HbMS was only mildly unstable. HbMS was susceptible to proteolytic degradation in the presence of ATP. The unexpectedly severe clinical findings in HbMS-beta +-thalassemia may result from the proteolytic digestion of HbMS, as well as the excessive alpha-chains characteristic of beta +-thalassemia, which combined provide the increment of cellular damage that results in the phenotype of thalassemia intermedia.
Topics: Child; Erythrocyte Indices; Erythrocytes, Abnormal; Female; Fetal Hemoglobin; Heinz Bodies; Hemoglobins, Abnormal; Heterozygote; Humans; Microscopy, Electron; Pedigree; Peptide Hydrolases; Phenotype; Reticulocytes; Thalassemia
PubMed: 2434529
DOI: 10.1172/JCI112890 -
Interdisciplinary Toxicology Mar 2014Pyrethroids, commercially available pesticides, are greatly in use these days, and thus they carry considerable chances of contaminating various ecosystems....
Pyrethroids, commercially available pesticides, are greatly in use these days, and thus they carry considerable chances of contaminating various ecosystems. Haematotoxicity of cypermethrin, a broadly used type II pyrethroid, has been assessed in the present study. Selected parameters included determination of total RBC count, haemoglobin concentration (Hb conc.), packed cell volume (PCV), mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH), mean corpuscular haemoglobin concentration (MCHC), erythrocyte sedimentation rate (ESR), total leukocyte count (TLC), differential leukocyte count (DLC), along with qualitative analysis of blood and bone marrow. Of these parameters, those showing significant decline following cypermethrin intoxication included total RBC count, Hb conc., PCV, MCV, MCH, whereas non-significant decrease was observed in the case of MCHC. ESR, TLC and DLC, on the other hand, increased significantly following cypermethrin intoxication. Qualitative changes included altered red cell morphology such as microcystosis, appearance of stomatocytes, poikilocytosis, giant platelet formation, etc. in peripheral blood and increased erythroid precursors in bone marrow of treated rats. These parameters were however normalised following twenty-two days of recovery phase.
PubMed: 26038674
DOI: 10.2478/intox-2014-0006 -
Blood Jan 1987The In(Lu) phenotype is inherited as an autosomal dominant trait and is characterized by suppression of the Lutheran, P1, i, and Aua erythrocyte blood group antigens. We...
The In(Lu) phenotype is inherited as an autosomal dominant trait and is characterized by suppression of the Lutheran, P1, i, and Aua erythrocyte blood group antigens. We have developed a monoclonal antibody (L21) that strongly agglutinates all erythrocytes except In(Lu), and we have identified eight In(Lu) individuals among 42,000 blood donors tested. Studies of two families confirmed the dominant mode of inheritance and revealed several new features of this phenotype. The erythrocytes of all five affected individuals from the two families exhibited diminished hemagglutination by the lectin concanavalin A, although they reacted normally with several other lectins. The erythrocytes of two affected individuals in one family exhibited marked acanthocytosis. The erythrocytes of the proposita of the other family exhibited a mild degree of poikilocytosis, but the cells of the other two affected individuals in this family had normal morphology. The osmotic fragility of fresh In(Lu) erythrocytes was normal, but after incubation for 24 hours at 37 degrees C in plasma the In(Lu) cells exhibited a marked increase in resistance to osmotic lysis. During the incubation period the erythrocytes lost K+ and their total cation content was diminished. These data indicate that in addition to the suppression of blood group antigens noted previously, the In(Lu) phenotype includes a variety of morphological abnormalities and a defect in electrolyte metabolism. The use of L21 and similar monoclonal antibodies provides a more sensitive means of detecting In(Lu) erythrocytes than typing with human anti-Lub antisera.
Topics: Antibodies, Monoclonal; Antigens, Surface; Cations; Erythrocytes; Erythrocytes, Abnormal; Lutheran Blood-Group System; Osmotic Fragility; Pedigree; Receptors, Mitogen
PubMed: 3790728
DOI: No ID Found -
Internal Medicine (Tokyo, Japan) Nov 1994We present findings in the ninth known Japanese family with lecithin:cholesterol acyltransferase (LCAT) deficiency. A 54-year-old man (proband) and his 58-year-old...
We present findings in the ninth known Japanese family with lecithin:cholesterol acyltransferase (LCAT) deficiency. A 54-year-old man (proband) and his 58-year-old brother presented with corneal opacity. Both subjects showed a marked decrease in serum high density lipoprotein (HDL)-cholesterol and in the cholesteryl ester ratio. Although apo A-I and A-II were low, apo E tended to be high. Serum LCAT activity and mass were not detectable. Urinary examination showed microhematuria or proteinuria. Renal function was normal and no anemia was demonstrated, but blood smears showed poikilocytosis with target cells. The serum LCAT activity of the proband's three sons, obligate heterozygotes of LCAT deficiency, was about one-half the normal level, and HDL-cholesterol and apo A-I levels were low normal.
Topics: Adult; Cholesterol, HDL; Corneal Opacity; Female; Heterozygote; Homozygote; Humans; Japan; Lecithin Cholesterol Acyltransferase Deficiency; Lipoproteins; Male; Middle Aged; Pedigree; Phosphatidylcholine-Sterol O-Acyltransferase
PubMed: 7849380
DOI: 10.2169/internalmedicine.33.677 -
Canadian Journal of Comparative... Jul 1985Ninety-eight calves were studied to determine if anemia and poikilocytosis were related to iron or copper status or hemoglobin type. No significant differences were... (Comparative Study)
Comparative Study
Ninety-eight calves were studied to determine if anemia and poikilocytosis were related to iron or copper status or hemoglobin type. No significant differences were found in serum iron, total iron binding capacity, marrow iron, plasma copper or hemoglobin type between affected and normal calves. Poikilocytes were strongly inversely correlated (-0.9177) with age. Calves less than six weeks of age had more poikilocytes, lower serum iron, higher total iron binding capacity, less adult hemoglobin and more neonatal and fetal hemoglobin than calves greater than six weeks of age.
Topics: Anemia; Animals; Cattle; Cattle Diseases; Copper; Erythrocytes, Abnormal; Female; Fetal Hemoglobin; Hematologic Diseases; Hemoglobins; Iron; Male
PubMed: 2412677
DOI: No ID Found -
Internal Medicine (Tokyo, Japan) May 1998We report a case of multiple diffuse fibrosarcoma of bone. The patient, a 38-year-old man, was referred to our hospital with knee pain, anemia and thrombocytopenia. No...
We report a case of multiple diffuse fibrosarcoma of bone. The patient, a 38-year-old man, was referred to our hospital with knee pain, anemia and thrombocytopenia. No solid mass was seen on radiographic examination of the kneejoint, but magnetic resonance imaging showed hypointensity of the distal femur. Femoral biopsy revealed proliferation of long spindle-shaped fibrosarcoma cells, while a bone marrow biopsy of iliac bone (which appeared normal on radiographic examinations) showed replacement of hematopoietic cells by fibroblast-like spindle cells. A diagnosis of multiple diffuse fibrosarcoma of bone was therefore made. Autopsy revealed tumor invasion into multiple bones and several visceral organs and extramedullary hematopoiesis in the liver, spleen and lymph nodes. As this patient had leukoerythroblastic anemia with poikilocytosis, splenomegaly exhibiting extramedullary hematopoiesis, and apparent fibrotic change in his bone marrow, we suggest that this extremely rare disease should be considered in the differential diagnosis of myelofibrosis.
Topics: Adult; Anemia, Myelophthisic; Biopsy; Bone Marrow Cells; Bone Neoplasms; Diagnosis, Differential; Fatal Outcome; Femur; Fibrosarcoma; Hematopoiesis, Extramedullary; Humans; Ilium; Magnetic Resonance Imaging; Male; Neoplasms, Multiple Primary; Primary Myelofibrosis; Tomography, X-Ray Computed
PubMed: 9652906
DOI: 10.2169/internalmedicine.37.480