Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemoglobin Fannin-Lubbock was found in a 9-year-old Mexican-American female. The abnormal hemoglobin was detected as a fast-moving variant by electrophoresis on cellulose acetate at pH 8.4. Structural analysis indicated a substitution in the beta-chain of aspartic acid for glycine at position 119, a position involved in the alpha1beta1 contact of the hemoglobin tetramer. This contact between unlike chains is larger and undergoes a smaller shift during the process of oxygenation and deoxygenation that the alpha1beta2 contact (Perutz, M.F., Muirhead, H., Cox, J.M. and Goaman, L.C.G. (1968) Nature 219, 131-139). Mutations in this contact tend to cause slight or no changes in functional behavior. Apart from a mild anemia, the propositus did not exhibit any obvious clinical symptoms.
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PMID:Hemoglobin Fannin-Lubbock [alpha2 beta 2 119 (GH2) Gly replaced by Asp]. A new hemoglobin variant at the alpha1 beta 1 contact. 1 28

Hb J Calabria is a fast moving hemoglobin variant which was found in an Italian family by Vecchio et al (1), and in a French family by Blouquit et al. who studied its functional properties (2). The original family described by Vecchio et al. in which both Hb J Calabria and beta-thalassemia were present has been reexamined and is the subject of the present study. Hematological and clinical features of the carriers are described. The heterozygous carriers of Hb J Calabria showed only mild variable subclinical anemia and levels of the abnormal hemoglobin ranging from about 33 to 42%. The Hb J Calabria/beta-thalassemia double heterozygote showed a moderate chronic hemolytic anemia with alterations of the RBC indices and morphology in addition to splenomegaly. The relationship between structural abnormality, functional properties and clinical expression of Hb J Calabria is discussed.
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PMID:Studies on a family with Hb J Calabria (alpha 2 beta 2 64 (E8) Gly replaced by Asp). 50 Mar 75

Hematological and biochemical findings in a family with hemoglobin (Hb) Beograd interacting with beta-thalassemia are presented. Hb Beograd (alpha2beta2 121 Gul leads to Val) was found in 3 members. In two members it interacted with beta-thalassemia. These two double heterozygotes had anemia of intermediate severity and splenomegaly. Studies with 51Cr and 59Fe showed a shortened life span of red cells and ineffective erythropoiesis. The abnormal Hb amounted to 86-87%, and Hb F to 5-7%. No Hb A was present. One subject of the family was heterozygous for Hb Beograd. He showed normal clinical and hematological findings. The abnormal hemoglobin was 38%. Four members of the family were heterozygotes for beta-thalassemia. The interaction between beta-thalassemia and beta-chain variants is discussed.
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PMID:Hemoglobin Beograd (alpha2beta2 121 Glu leads to Val) interacting with beta-thalassemia. 80 62

A screening survey for abnormal hemoglobins at a hospital in Mizunami city, Gifu prefecture, Japan detected a fast-moving variant of hemoglobin in a family of Japanese origin. The abnormal hemoglobin constitutes about 45 percent of the total hemoglobin from the propositus and another carrier in the family, but neither of these persons had anemia, jaundice, cyanosis or splenomegaly. Structural analysis of this hemoglobin revealed that the amino acid substitution was at residue 83 in the beta chain, where a glycine was replaced by an aspartic acid. This hemoglobin variant has been previously reported in a Greek child (hemoglobin Pyrgos) (1). Oxygen affinity of hemoglobin Pyrgos was found to be normal.
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PMID:Hemoglobin Pyrgos (beta83 Gly replaced by Asp) in a Japanese family. 89 27

Severe illness developed after the oral administration of several drugs, including large doses of phenazopyridine (100 mg TID for 4 days) to a cat with dysuria and hematuria. Hemolysis and icterus were evident in blood serum and plasma after day 4 of drug administration, and many hemolyzed red blood cell "ghosts" containing Heinz bodies were observed on a stained blood smear. The cat became anemic and died within 48 hours after the last dose was administered. In an attempt to confirm a cause-and-effect relationship between drug administration and disease, 100 mg of phenazopyridine was given TID (65 mg/kg/day) for 3 days to a clinically normal cat. Nearly 50% of the hemoglobin was oxidized to methemoglobin during the course of phenazopyridine administration. Lower dosages of phenazopyridine (10 and 20 mg/kg/day) for longer periods of administration to 2 other clinically normal cats did not result in illness or anemia; however, the number and size of Heinz bodies and blood methemoglobin content were increased. Evidence of hepatic injury was observed in the clinically affected cat and in 2 of the experimental cats. The relationship between hepatic injury and toxic signs was not determined. Combination products recommeneded for treatment of cystitis in man often contain phenazopyridine. Such products should be avoided in cats unless a safe, effective dosage for phenazopyridine can be established.
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PMID:Phenazopyridine toxicosis in the cat. 95 20

Hematological studies were developed on two mares and twelve adults castrate sheeps of "Ideal" breed. The animals had been on a pasture formed with Brachiaria radicans Napper for one and two months respectively. This experiment was developed in winter time, so the leaves of the graminea had a yellow-green color. Clinical and hematological observations were made weekly. The typical symptoms of intoxication failed to present as observed in the former investigation when the plant was green (3). The hematological exames showed only for ovines a slight anemia, it was also characterized as being macrocytic and hypochromic. Some red blood cells with basophillic stippling and the occurrence of anisocytosis was observed in the blood of anemic animals, but no methemoglobin and Heinz bodies were found. The Brachiaria radicans Napper, had a low level of nitrate (2) therefore the animal poisoning must be attributed to another plant component, not nitrate as admited in the first hematological study (12).
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PMID:[Hematological effects produced on horses and sheeps pasturing upon Brachiaria radicans Napper (Tanner grass) in winter time (author's transl)]. 103 96

Hb M Akita disease is a cyanotic hemoglobinopathy found in Akita Prefecture, Japan. The abnormal hemoglobin was found to be the same as Hb M Hyde Park (beta92 His replaced by Tyr) by chemical analysis in 1967. In this disease signs of accelerated hemolysis (serum bilirubin, 2.4 mg/dl; splenomegaly, 2 finger breadths; Hb, 10.7 g/dl; reticulocyte index, 2.7) were noted, but the causes of its slight anemia were revealed to be fairly complex by ferrokinetic study, RBC life-span measurement, and 99mTc myeloscintigram. The anemia in this disease is caused not only by shortened erythrocyte survival (T 1/2 = 11.5 days by 51Cr-tagging method) and sequestration of red cells in the spleen (Spleen: liver ratio = 2.5 approximately 3.0 by 51Cr-surface counting), but also by slow supply of erythrocytes to the peripheral blood from the bone marrow, presumably, related to the existence of unstable Hb M Akita and its derivative (Hb Akita) in the erythroid cells. Both Carrell's isopropanol test and Heinz body formation test were positive. In spite of maximally increased total erythropoiesis (8 times as high as the normal level; M:E ratio = 0.22:1.0), supply of red cells from the bone marrow to the peripheral blood was significantly decreased. The distribution of hematopoietic sites throughout the body was reasonably uniform.
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PMID:Altered erythropoiesis and increased hemolysis in hemoglobin M Akita (M Hyde Park beta92 His replaced by Tyr) disease. 105 75

Administration by the owner of three 325-mg (5-gr) tablets of acetaminophen (N-acetyl-p-aminophenol) to each of 2 adult Burmese cats was associated with severe illness of both cats and death of one. Administration of two 325-mg tablets to each of 2 experimental adult cats resulted in severe illness. Marked cyanosis was observed in experimental cats within 4 hours after administration of one 325-mg tablet. Cyanosis was apparently due to anoxia associated with conversion of hemoglobin to methemoglobin by acetaminophen or its metabolites. Anemia, hemoglobinuria, and icterus were subsequently observed in the cats. Anemia and hemoglobinuria were caused by intravascular hemolysis of red blood cells (RBC). Icterus was due to both lysis of RBC and hepatic necrosis. Facial edema developed in 3 of 4 cats, but the pathogenesis of this lesion was not determined. The doses of acetaminophen were extremely large; however, administration of comparable doses to cats by their owners is a potential hazard because the drug is available without prescription as a 325-mg tablet. From information available at present, it seems that acetaminophen administration to the cat causes more dramatic clinical signs and is more likely to be fatal than the same doses of salicylates. Because phenacetin is metabolized to acetaminophen, similar clinical signs may occur in cats given phenacetin.
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PMID:Acetaminophen toxicosis in the cat. 111 50

Acute illness characterized by fever, cough, chest pain and pulmonary infiltrates on chest film is characteristic of patients witb sickle cell anemia and with sickle-C disease. The underlying hemoglobinopathy is usually recognized in the former, but because patients with sickle-C disease as a rule have less severe anemia and fewer, less severe crises their abnormal hemoglobin may not be detected until adolescence or adulthood. Acute pulmonary illness in such patients may therefore present a diagnostic dilemma for the unwary. Two cases are presented to highlight this point. Pulmonary angiographic findings in patients with sickle cell states might add information about the pathogenesis of this disorder since vascular occlusion appears to play a major role. Pulmonary angiograms in the two patients we describe documented the presence of localized abnormalities of perfusion. In one, the presence of filling defects in medium-sized arteries suggests intravascular thromboembolism.
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PMID:Hemoglobin S-C disease presenting as acute pneumonitis with pulmonary angiographic findings in two patients. 112 91

We found that an abnormal hemoglobin with a very low oxygen affinity was responsible for overt cyanosis in an otherwise healthy adolescent. Hemoglobin Beth Israel, in which serine replaces the asparagine residue normally present at position 102 (G4) of the beta-polypeptide chain, was associated with normal blood counts and no apparent exercise intolerance in the heterozygous carrier. Cyanosis resulted from a drastically right-shifted oxygen dissociation curve, whose position and shape could account for the absence of "physiologic" anemia. The whole-blood oxygen tension at 50 per cent oxygen saturation was 88 mm Hg (normally 26 +/- 1 mm Hg), and the arterial blood was only 63 per cent saturated with oxygen despite a normal oxygen tension of 97 mm Hg. The hemolysate showed a low oxygen affinity but normal Bohr effect. Unexplained cyanosis, particularly in association with normal arterial oxygen tension should prompt a search for an abnormal hemoglobin, which may obviate the need for invasive diagnostic procedures.
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PMID:Hemoglobin Beth Israel. A mutant causing clinically apparent cyanosis. 127 28


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