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Hemoglobin 1977The trait condition for hemoglobin Tak, was found in a 4-day old newborn Malay who suffered from severe neonatal jaundice. The beta chain of the abnormal hemoglobin was...
The trait condition for hemoglobin Tak, was found in a 4-day old newborn Malay who suffered from severe neonatal jaundice. The beta chain of the abnormal hemoglobin was elongated by 11 residues at the C-terminus and had the same structure as reported for Hb Tak. The mother was heterozygous for this abnormal hemoglobin, the father was normal. The mother and child, 4 years later, did not show clinical or hematological symptoms except definitely increased resistance of their erythrocytes to hypotonic saline solutions and slight anisopoikilocytosis. The abnormal gene in the two reported Thai families and in our Malay family may have the same origin.
Topics: Hemoglobins, Abnormal; Humans; Infant, Newborn; Jaundice, Neonatal; Malaysia; Male; Peptides
PubMed: 604313
DOI: 10.3109/03630267709003904 -
Minerva Medica Sep 1981We report on 15 patients affected by myelofibrosis. The main clinical aspects were hepatosplenomegaly, anemia and leukocytosis. Immature cells and anisopoikilocytosis of...
We report on 15 patients affected by myelofibrosis. The main clinical aspects were hepatosplenomegaly, anemia and leukocytosis. Immature cells and anisopoikilocytosis of the erythrocytes were frequently found in the peripheral blood. At bone biopsy, various aspects of panhyperplasia, increase in the reticular fibers, myeloid fibrosis and osteosclerosis were observed. Leukocyte alkaline phosphatase was frequently elevated. The clinical and laboratory course of the disease, causes of death and the possible etiopathogenetic aspects of this disease are considered and discussed.
Topics: Adult; Aged; Alkaline Phosphatase; Bone Marrow Examination; Erythrocytes, Abnormal; Female; Humans; Karyotyping; Leukocytes; Leukocytosis; Male; Middle Aged; Platelet Count; Primary Myelofibrosis
PubMed: 7290453
DOI: No ID Found -
American Journal of Hematology Nov 2000Of the numerous beta-thalassemic mutations linked or unlinked to the beta-globin gene, all invariably cause a decrease in or an absence of structurally normal...
Of the numerous beta-thalassemic mutations linked or unlinked to the beta-globin gene, all invariably cause a decrease in or an absence of structurally normal beta-globin mRNA when assayed. Here we report an anemic patient with an elevated alpha-/beta globin synthesis ratio of 2.0 in his reticulocytes. The patient's blood film showed marked red cell anisopoikilocytosis, microcytosis, and hypochromia, consistent with a typical beta-thalassemic trait phenotype. Acid-eluted erythrocytes contained numerous Heinz bodies. Molecular analysis of the patient's reticulocyte mRNA indicated that, compared to normal controls, there was a 3-fold elevation of beta-globin mRNA when assayed by RT-PCR and a 1.5-fold elevation of beta-globin mRNA when assayed by RNA slot blotting. The level of alpha-globin mRNA was normal when compared to that of normal adult controls. Extensive structural analysis of the beta-globin mRNA and gene by sequencing of RT-PCR and PCR products, respectively, did not detect any mutations. Tryptic mapping of purified beta-globin chains also did not show any abnormal tryptic fragments. These data indicated that a relative insufficiency of structurally normal beta-globin mRNA was not a cause of this beta-thalassemic phenotype. Therefore, the lesion that caused this particular thalassemic phenotype is not linked to the beta-globin allele.
Topics: Anemia; Child, Preschool; Globins; Humans; Male; Phenotype; RNA, Messenger; Reticulocytes; beta-Thalassemia
PubMed: 11074543
DOI: 10.1002/1096-8652(200011)65:3<243::aid-ajh12>3.0.co;2-6 -
Internal Medicine (Tokyo, Japan) Feb 1992A 26-year-old Chinese-Malaysian female patient with beta-thalassemia is presented. The main hematological values found in this patient were as follows: 1) normocytic...
A 26-year-old Chinese-Malaysian female patient with beta-thalassemia is presented. The main hematological values found in this patient were as follows: 1) normocytic hypochromic anemia (RBC 444 x 10(4)/microliters, Hb 11.8 g/dl) with marked anisopoikilocytosis, 2) erythroid hyperplasia, and 3) increased HbF (HbA 41.4%, HbA2 2.9%, HbF 48.9%). DNA obtained from peripheral leukocytes was analyzed using dot blot hybridization of the polymerase chain reaction (PCR)-amplified DNA with allele-specific oligonucleotide probes. A C----T substitution at position 654 of the second intervening sequence (IVS-2) was detected in her beta-globin clone.
Topics: Adult; Base Sequence; DNA; DNA Mutational Analysis; Female; Globins; Glomerulonephritis, IGA; Humans; Introns; Molecular Sequence Data; Pedigree; RNA Splicing; RNA, Messenger; Thalassemia
PubMed: 1600278
DOI: 10.2169/internalmedicine.31.269 -
[Rinsho Ketsueki] the Japanese Journal... Jun 1993A 60-year-old female was admitted to our hospital because of macrocytic anemia with anisopoikilocytosis and thrombocytopenia. A bone marrow aspiration revealed hypolasia...
A 60-year-old female was admitted to our hospital because of macrocytic anemia with anisopoikilocytosis and thrombocytopenia. A bone marrow aspiration revealed hypolasia with nuclear deformity of neutrophils and decrease of megakaryocytic numbers. Karyotype analysis showed 47, XX, +8. A diagnosis of refractory anemia was made. The patient was treated with metenolone acetate without clinical response. Deferoxamine (2g/day) was given intravenously by continuous infusion. Ten days after deferoxamine treatment, the levels of RBC and platelet increased and the effect lasted 100 days after discontinuance of deferoxamine. Bone marrow aspiration showed normoplasia with normal megakaryocytes numbers. However, anisopoikilocytosis, abnormality of MCH and MCHC, and karyotype abnormality similar to the first medical examination remained. These data might suggest that deferoxamine induced differentiation of abnormal hemopoietic cells in refractory anemia. Retrobulbar neuritis which developed 30 days after initiation of treatment disappeared after halting deferoxamine treatment.
Topics: Anemia, Refractory; Deferoxamine; Female; Humans; Infusions, Intravenous; Middle Aged
PubMed: 8366578
DOI: No ID Found -
British Journal of Haematology Aug 1978This report concerns a 6-year-old child with severe dyseythropoietic anaemia and splenomegaly, apparently present since the first months of life. Striking...
This report concerns a 6-year-old child with severe dyseythropoietic anaemia and splenomegaly, apparently present since the first months of life. Striking anisopolikilocytosis was observed in the blood smear. The bone marrow showed marked erythroblastic hyperplasia with dyserythropoiesis. Ineffective erythropoiesis was demonstrated by ferrokinetic studies. Ultrastructurally erythroblasts appeared grossly abnormal. The clinical course was progressively worsening, necessitating repeated transfusions. The patient's father, also affected by a chronic anaemia of moderate degree since childhood, had a peripheral picture of anisopoikilocytosis, a shortened life span of the erythrocyte and in his bone marrow an erythroblastic hyperplasia with many atypical erythroblasts. His condition deteriorated because of persistent jaundice, biliary cholelithiasis, fibrosis and haemosiderosis of the liver. The clinical course, the pattern of the genetical transmission, the peculiar features of the erythroblasts disclosed by light and by electron microscope studies suggest that these cases represent a new type of congenital dyserythropoietic anaemia.
Topics: Adult; Anemia; Bone Marrow; Child; Erythroblasts; Erythrocyte Aging; Erythropoiesis; Humans; Male; Microscopy, Electron
PubMed: 698127
DOI: 10.1111/j.1365-2141.1978.tb03623.x -
Neoplasma 1989Effect of tumor growth on the survival of circulating erythrocytes was studied in mice bearing a wide spectrum of experimental tumors. RBC half-life (t1/2), measured by...
Effect of tumor growth on the survival of circulating erythrocytes was studied in mice bearing a wide spectrum of experimental tumors. RBC half-life (t1/2), measured by 51Cr-labeling technique, decreased significantly (p less than 0.05) in all the tumor types studied, particularly in transplantable Sarcoma-180 and benzo(a)pyrene-induced primary fibrosarcoma. Changes in erythrocyte morphology like anisopoikilocytosis were also observed in the tumor hosts. Cross-transfusion of 51Cr-labeled RBCs between normal and tumor-bearing animals revealed that both intrinsic and extrinsic factors are responsible for shortened RBC survival. As far as the cellular abnormalities are concerned, the decrease in RBC t1/2 was not attributable to increased osmotic fragility as the cells were observed to be osmotically more resistant. Similarly, membrane sialic acid content was markedly elevated in the tumor hosts, thus the shortened erythrocyte life-span cannot be attributed to decrease in sialic acid content of the erythrocyte membrane.
Topics: Anemia; Animals; Carcinoma, Ehrlich Tumor; Cell Survival; Erythrocyte Membrane; Erythrocytes; Lymphoma; Mice; Mice, Inbred A; Osmotic Fragility; Reference Values; Sarcoma 180; Sialic Acids
PubMed: 2716920
DOI: No ID Found -
Lijecnicki Vjesnik 1989Clinical, hematologic and hemoglobin composition data on the first case of Hb 0-Arab in association with beta 0-thalassemia in Yugoslavia are reported here. The...
Clinical, hematologic and hemoglobin composition data on the first case of Hb 0-Arab in association with beta 0-thalassemia in Yugoslavia are reported here. The propositus was a 26-years-old female from Strumica who was admitted to the hospital for several times because of anemia, hepatosplenomegaly, occasional abdominal pains, malaise and fatigue. Laboratory results presented: Hb 10.0 g/dl, RBC 3.84.10(12)/L, PCV 0.260 l/l, MCV 68 fl, MCH 26 pg, reticulocyte count 1.8%, anisopoikilocytosis, polychromasis, numerous target cells, total bilirubin 2.1 mg/dl, (indirect 1.7 mg/dl), serum-Fe 32.3 microM/L. A starch gel electrophoresis of hemolysate provided evidence for the presence of abnormal hemoglobin (approximately 85%) and Hb F (approximately 15%); the Hb A was absent. Familial screening showed her father was heterozygous for the abnormal hemoglobin, whereas the mother was heterozygous for beta-thalassemia. In vitro biosynthesis disclosed a total absence of beta globin and reduced synthesis of beta x x and gamma globin. The alpha/beta x + gamma-globin ratio was 1.77 (normal, 1.0 + 0.1). Amino acid analysis revealed that lysine substituted for glutamic acid at the position one hundred twenty-one of the beta chain (= Hb 0-Arab or beta 121 Glu----Lys).
Topics: Adolescent; Adult; Child, Preschool; Female; Hemoglobins, Abnormal; Humans; Middle Aged; Pedigree; Thalassemia
PubMed: 2739498
DOI: No ID Found -
Rinsho Byori. the Japanese Journal of... Mar 1998A 44-year-old Japanese male showed a high value of HbF (14.3%) in an assay of glycated Hb (HbA1c) by use of HLC-723GHb II system. The proband was asymptomatic although...
A 44-year-old Japanese male showed a high value of HbF (14.3%) in an assay of glycated Hb (HbA1c) by use of HLC-723GHb II system. The proband was asymptomatic although he was found to be anemic ten years ago. The hematological examination revealed microcytosis, hypochromia and slight reticulocytosis (3.7%). Serum iron level was high (245 g/dl). Blood smear revealed aniso-poikilocytosis with scattered target cells. Hb analysis showed a remarkable increase of HbA2 (8.6%) as well as the high HbF cited above, but no abnormal Hb was detected. The beta/alpha ratio of globin biosynthesis in reticulocytes was decreased to 0.25. DNA sequencing of the beta-globin gene disclosed that the proband was homozygous for beta (+)-thalassemia mutation-31CapA-->G. This mutation was linked to A gamma T gene and haplotype -(-)+2(-)+2-. His parents and two daughters were heterozygous for the mutation. They were anemic and had increased HbA2 levels of 4.36-5.43%. The beta/alpha ratios of globin biosynthesis were 0.61-0.81.
Topics: Adult; Aged; Anemia; Child; Female; Fetal Hemoglobin; Globins; Haplotypes; Homozygote; Humans; Male; Mass Screening; Middle Aged; Mutation; Pedigree; beta-Thalassemia
PubMed: 9564765
DOI: No ID Found -
[Rinsho Ketsueki] the Japanese Journal... Sep 1993A 78-year-old man presented with marked thrombocytosis (126.4 x 10(4)/microliters), low neutrophil alkaline phosphatase (NAP) score and an abnormal karyotype of 46, XY,...
A 78-year-old man presented with marked thrombocytosis (126.4 x 10(4)/microliters), low neutrophil alkaline phosphatase (NAP) score and an abnormal karyotype of 46, XY, del(20) (q11q13) (18 of 20 cells), without obvious anemia or ringed sideroblasts in bone marrow. He received ranimustine (MCNU) with a diagnosis of essential thrombocythemia. After 2 years, he was admitted because of macrocytic anemia. The peripheral blood smear showed anisopoikilocytosis with a few nucleated red blood cells. Moderate thrombocytosis (71.7 x 10(4)/microliters) and a low NAP score were also observed. Bone marrow aspiration revealed erythroid hyperplasia with a significant increase in ringed sideroblasts (85% of erythroblasts). Cytogenetic studies showed the same abnormal karyotype 46, XY, del(20) (q11q13) in 100% of metaphase cells as those at initial diagnosis. A diagnosis of sideroblastic anemia preceded by essential thrombocythemia was made. No rearrangement or amplification of c-src was revealed. The observation of the same chromosome abnormality (20q-) in different phases of this patient's disease indicates that chronic myeloproliferative disorders and myelodysplastic syndrome may share some borderline or transitional cases with a similar pathogenesis.
Topics: Aged; Anemia, Sideroblastic; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 20; Humans; Karyotyping; Male; Thrombocythemia, Essential
PubMed: 8230746
DOI: No ID Found