Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q0Z944 (hemoglobin)
 63,986 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Data are presented on several polymorphic genetic markers in 200 Greek gypsies. Polymorphic loci studied were: the ABO, MN, Rhesus, Kell and Duffy blood groups, hemoglobin, and ceruloplasmin. A survey for congenital malformations and hereditary diseases was also carried out on this group. The ABO, Rhesus, MN and Duffy system frequencies varied significantly from the figures obtained for the Greek population. However, there is a characteristic similarity between various gypsy groups studied in other nations and the distribution of polymorphic traits in the Punjab region of India. Cystic fibrosis, renal tubular acidosis, 21-hydroxylase deficiency, Hoty-Oram syndrome and homozygous beta-thalassemia were diagnosed within the gypsy group studied.
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PMID:Genetic structure of the Greek gypsies. 10 65

Frequent blood transfusions are necessary in aplastic anemia because of decreased hematopoietic function. In order to maintain the hemoglobin level and to decrease the need for blood transfusion, human ceruloplasmin was used for the treatment of 73 patients with aplastic anemia. A marked beneficial effect was obtained in 16 cases. The treatment was moderately effective in 17 cases, slightly effective in eight cases, and ineffective in 32 cases. The usual dose of ceruloplasmin was 15 mg/day, but it was varied according to symptoms. Side effects were minimal when ceruloplasmin was administered by slow intravenous injection.
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PMID:Clinical results on the use of human ceruloplasmin in aplastic anemia. 23 Jun 21

Three experiments involving 52 baby pigs were conducted to determine the minimum copper requirement of baby pigs fed purified diets. Diets were supplemented with anhydrous cupric sulfate to yield the following copper concentrations (ppm, by analysis) when the three experiments were combined: 0.6, 0.9, 1.3, 1.9, 2.0, 2.8, 3.2, 4.0, 4.9, 5.6 and 9.3. Parameters examined include weight gain, hematocrit, hemoglobin concentration, mean corpuscular hemoglobin concentration, plasma ceruloplasmin activity, plasma copper concentration, copper balance, brain and erythrocyte superoxide dismutase activity, copper concentration of liver, kidney, spleen, heart, brain, femur and hair, liver ferritin-iron and total iron concentration, strength characteristics of the femur, and gross and histological appearance at necropsy. Weight gains were subnormal at dietary copper concentrations below 1.9 ppm; plasma ceruloplasmin activities, and plasma and tissue copper concentrations were depressed at dietary copper levels below 2.8 ppm. Bone histopathology was evident at dietary copper levels below 3.2 ppm, and copper balance was low at dietary copper levels below 4.9 ppm. Some evidence of anemia was present at dietary copper levels below 5.6 ppm. Under the conditions of this study, the copper requirement of the baby pig fed a purified diet was judged to be approximately 5.6 ppm (6 ppm copper, dry basis).
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PMID:Copper requirement of baby pigs fed purified diets. 44 53

Factors related to iron metabolism were determined in 20 United States Navy divers during 8 d of air saturation-excursion hyperbaric exposures. During these simulated dives progressive and correlated increases in serum ferritin and iron occurred. No significant changes were observed in bilirubin, hemoglobin, ceruloplasmin, transferrin, copper, or total iron binding capacity. The significance of the increased serum ferritin is discussed in relation to bone marrow damage and early detection of aseptic bone necrosis.
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PMID:Changes in serum ferritin and other factors associated with iron metabolism during chronic hyperbaric exposure. 45 20

Phenotype and gene frequencies are presented for eight polymorphic systems among the Nubians of South Egypt, namely, acid phosphatase, glucose-6-phosphate dehydrogenase, adenylate kinase, 6-phosphogluconate dehydrogenase, esterase D, phosphoglucomutase I, peptidase A, and haptoglobin. Eleven systems, namely, albumin, ceruloplasmin, hemoglobin, lactate dehydrogenase, isocitrate dehydrogenase, phosphohexose isomerase, malate dehydrogenase, peptidase B and C, phosphoglucomutase II, and transferrin were found to be monomorphic. A single electrophoretic variant of phosphohexose isomerase were observed.
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PMID:The Nubians of Kom Ombo: serum and red cell protein types. 61 20

Weekly determinations of serum copper (Cu) and zinc (Zn) were made in eight adult patients receiving total parenteral nutrition (TPN) for 3 to 13 weeks. Serum Cu decreased in all eight patients. Five of eight patients had hypocupremia lasting at least 2 consecutive weeks and three of the five had Cu levels of 30 mug/dl or lower. Low levels of serum ceruloplasmin provided supportive evidence of Cu deficiency in the three patients with the lowest Cu levels. Two patients who had Cu less than or equal to 20 mug/dl demonstrated declines in hemoglobin which were probably due to Cu deficiency. The mean rate of decline in serum Cu was 10.8 mug/dl/week. After resumption of oral feedings in five patients, the mean rate of increase in Cu was 14 mug/dl/week. The sharpest rise in Cu was seen during the 2nd week after oral feedings were resumed in four of the five patients. Three of eight patients had serum Zn levels less than 70 mug/dl for at least 2 consecutive weeks. Serum Zn decreased at a mean rate of 6.6 mug/dl/week. There was a further decline in serum Zn in three of five patients in whom measurements were made after resumption of oral intake. Concentrations of Zn in TPN solutions varied between 0.63 and 1.0 mg/liter. Cu was undetectable in TPN solutions.
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PMID:A prospective study of serum copper and zinc levels in patients receiving total parenteral nutrition. 81 16

Blood samples from 509 Macushi and 623 Wapishana Amerindians of of Northern Brazil and Southern Guyana have been analyzed with reference to the occurrence of rare variants and genetic polymorphisms of the following 25 systems: (i) Erythrocyte enzymes: acid phosphatase-1, adenosine deaminase, adenylate kinase-k, carbonic anhydrase-1, carbonic anhydrase-2, esterase A1,2,3, esterase D, galactose-1-phosphate uridyltransferase, isocitrate dehydrogenase, lactate dehydrogenase, malate dehydrogenase, nucleoside phosphorylase, peptidase A, peptidase B, phosphoglucomutase 1, phosphoglucomutase 2, phosphogluconate dehydrogenase, phosphohexoseisomerase, triosephosphate isomerase and (ii) Serum proteins: albumin, ceruloplasmin, haptoglobin, hemoglobin A2 and transferrin. Fifteen different rare variants were detected, involving 11 of these systems. In addition, a previously undescribed variant of ESA 1,2,3 which achieves polymorphic proportions in both these tribes is described. Excluding this variant, the frequency of rare variants is 1.1/1000 in 12510 determinations in the Macushi and 4.7/1000 in 15396 determinations in the Wapishana. The ESA 1,2,3 polymorphism was not observed in 382 Makiritare, 232 Yanomama, 146 Piaroa, 404 Cayapo, 190 Kraho and 112 Moro. Irregularities in the intratribal distribution of this polymorphism in the Macushi and Wapishana render a decision as to the tribe of origin impossible at present. Gene frequencies are also given for previously described polymorphisms of 5 systems: haptoglobin, phosphoglucomutase 1, erythrocyte acid phosphatase, esterase D, and galactose-1-phosphate-uridyl-transferase.
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PMID:Genetic studies of the Macushi and Wapishana Indians. I. Rare genetic variants and a "private polymorphism' of esterase A. 87 Apr 12

Data for the distribution of alleles controlling two blood group systems and secretor status, for hemoglobin types, five serum protein groups and 15 red cell enzyme systems has been obtained. Eleven of the systems showed polymorphic variation and these systems have been used to calculate genetic distances using Morton's Kinship measure. No systematic relationship between genetic distance and geographic location of linguistic affiliation is apparent. There is, however, an apparent cline of decreasing frequency of PGDc from east to west and also significant differences in the frequency of G6PD deficiency corresponding to variation in the ecology of the region. Genetic distance comparisons with other selected populations reveal that the Turkic and Turkoman speaking peoples in the Caspian area cluster with the Kurds, Greeks and Iranis. The Persian speakers are genetically remote from these populations; they are, however, close to the Parsis who migrated from Iran to India at the end of the Seventh Century A.D. Several unusual genetic variants were detected, including a novel MDH phenotype, a superoxide dismutase phenotype identical with the Scandinavian type, and rare forms of LDH, PGM locus 2, ceruloplasmin, diaphorase, peptidases and PHI.
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PMID:Genes and people in the Caspian Littoral: a population genetic study in Northern Iran. 87 Nov 49

In order to study the relationship between nutritional status and immunity, certain biochemical and immunological parameters were examined in 53 children with mild or severe malnutrition and 35 normal controls. The levels of hemoglobin, total serum protein and complement (C'3) were not affected by malnutrition. There was a significant depression of serum albumin, transferrin and ceruloplasmin in the severely malnourished children. Serum IgM, IgG and IgD were normal in both malnourished groups. The level of serum IgA was elevated only in the severely malnourished children. The proportion of B cells was the same in all groups; howver, the frequency of T cells was reduced in the severely malnourished cases.
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PMID:Effect of malnutrition on several parameters of the immune system of children. 108 23

Beagle serum proteins were separated by 2-dimensional electrophoresis and identified by histochemical and autoradiographic techniques. Haptoglobin, hemoglobin, ceruloplasmin, transferrin, and lipoprotein and glycoprotein fractions were identified. Use of a continuous gradient polyacrylamide gel revealed serum protein fractions not previously described.
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PMID:Serum proteins of the Beagle dog: a two-dimensional electrophoretic study. 111 84


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