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PubMedDate not supplied

Tired blood. Part 2.

Anemia, "tired blood," with all the accompanying symptoms, such as fatigue, dyspnea, dizziness, muscle weakness, altered brain function, decreased gastrointestinal function, and cardiac stress, is not a disease. Rather, anemia is a sign that something has interfered with the red blood cell transport system that carries hemoglobin-containing oxygen to all bodily tissues (National Anemia Action Council [NAAC], 2002). In part 1 of this discussion (May/June issue of Orthopaedic Nursing), anemias related to interference with red blood cell development were addressed. In this section, anemias related to hemoglobin abnormalities (microcytic hypochromic anemia) and anemias related to premature erythrocyte destruction (hemolytic anemia) are discussed. Treatment approaches and selected pharmacological interventions are identified.

Anemia, Hemolytic↗

PubMed2006

[Neonatal screening for hemoglobinopathies: a one-year experience in the public health system in Rio Grande do Sul State, Brazil].

Hemoglobinopathies are the most common inherited disorders in humans; the most frequent are hemoglobins S and C (Hb S and Hb C). Studies in Brazil show the high prevalence of Hb S and Hb C heterozygotes, indicating the need for diagnosis to allow medical care and suitable genetic counseling. This study evaluates the prevalence of hemoglobin patterns in different areas of Rio Grande do Sul State, Brazil, using neonatal data from the public health system. Blood samples from 117,320 newborns, obtained by heel stick, and 2,389 blood samples from parents of newborns, obtained by venopuncture, were submitted to IEF and HPLC. Among the newborns, 1,629 (1.4%) showed abnormal hemoglobin patterns: 1,342 FAS; 225 FAC; 45 FAD; 2 FSC; 1 FS and 26 variant hemoglobin heterozygotes. We conclude that the methods used are able to identify a broad variety of hemoglobin patterns with high specificity and sensitivity. The information is of paramount importance for transmitting knowledge in the public health field, besides facilitating planning and resource allocation.

Anemia, Sickle Cell↗

PubMedDate not supplied

Asymetric tetramer in a second occurrence of hemoglobin Porto Alegre alpha A2betaAbeta9Ser replaced by Cys.

Hemoglobin Porto Alegre is an abnormal human hemoglobin which polymerizes by formation of intermolecular disulfide bonds between the mutant cysteinyl residues at the beta9 position. Biochemical studies of this abnormal hemoglobin from a heterozygous carrier of a second family of carriers indicates that an asymmetric tetramer alphaA2betaAbeta9 Ser replaces Cys is formed after polymerization. Functional studies of the polymer indicate that its oxygen binding properties are unaffected by the polymerization and that its oxygen affinity is somewhat higher than that of normal hemoglobin; it has a slightly reduced heme-heme interaction and a normal Bohr effect.

Cystine↗

PubMed1979

Sickle cell syndromes. III. Silent-carrier alpha-thalassemia in combination with hemoglobin S and hemoglobin C.

Silent carrier alpha-thalassemia was identified in two individuals, one with sickle-cell trait and the other hemoglobin (Hb) C trait. Both are parents of a child with characteristic hematologic features of the Hb SC-alpha thalassemia syndrome, including microcytosis and an unbalanced pattern of globin synthesis. In contrast to the typical findings that accompany heterozygous Hb S or Hb C with concomitant alpha-thalassemia trait, neither of the parents had microcytosis nor a percent of the abnormal hemoglobin in their erythrocytes that was below the normal range. In both, however, globin synthesis of peripheral blood reticulocytes was unbalanced, consistent with mild alpha-thalassemia. These findings suggest that the alpha-thalassemia silent carrier may be hematologically indistinguishable from the nonthalassemic individual, even when hemoglobin S or C are present.

Anemia, Sickle Cell↗

PubMed1978

Hemoglobin electrophoresis at alkaline pH on agarose gels.

We describe a modified thin agarose-gel system for use in primary hemoglobin screening by electrophoresis. The system makes use of a Tris-EDTA-borate-buffered agarose gel (pH 8.8) and a sodium barbital electrophoresis buffer (pH 8.6). Separation is effected in 20 min at a constant potential of 250 V. Eight samples can be simultaneously separated and the patterns made visible in 47 min. There are fewer operative steps needed in running and staining. Normal and the more common abnormal hemoglobins are separated into easily visualized and differentiated bands, with the separation of HbA and F significantly improved over that attainable by present methods.

Blood Protein Electrophoresis↗

PubMed2001

Molecular characterization of hemoglobin C in Thailand.

We describe hematologic and DNA characterization of 12 hemoglobin C heterozygotes and three compound heterozygotes for hemoglobin C and hemoglobin E found in Thailand. Amplification and DNA analysis of genomic DNA by the polymerase chain reaction procedure permitted the identification of the beta(C) mutation at codon 6 of beta-globin gene (beta 6; GAG-AAG). beta-Globin gene haplotype analysis demonstrated that all beta(C) globin genes detected in these Thai individuals were associated with the haplotype (+ - - - - - +), indicating a non-African origin of this abnormal hemoglobin in Thailand. On routine hemoglobin typing, hemoglobin C is usually mistakenly identified as hemoglobin E because of theirs similar mobilities on cellulose acetate electrophoresis. The simple DNA assay for hemoglobin C based on an allele-specific polymerase chain reaction for accurate diagnosis of hemoglobin C was therefore developed.

Adult↗

PubMed1985

Oxidation and cross-linking of human hemoglobins by activated oxygen species.

The effect of activated oxygen species on human hemoglobins was studied. All radicals induced polymerization in Hb A both intermolecular and by cross-linking of subunits (intramolecular). However, a system producing mainly superoxide ion gave the most important changes. An oxidation step is necessary to produce polymerization since in the case of cyanmet Hb A (where there is no possible oxidation) no polymerization occurs. The effect of O2- on blocked SH beta 93 Hbs or on the abnormal Hbs tested was practically identical to that on Hb A although their autoxidation rates were modified. Consequently the action of radicals is different from autoxidation processes and the modified residues in the abnormal hemoglobins are not involved in the action of superoxide ion on Hb. The kinetics of oxidation of Hb by H2O2 followed two steps: the first is the oxidation of oxy Hb to ferri Hb and the second is hemichrome formation. This last step is independent of the presence of H2O2 since it is not inhibited by catalase. The kinetics of oxidation to ferri Hb were of second order and the rate constant was found to be 16 M-1 sec-1.

Cross-Linking Reagents↗

PubMed2005

Lungs in hemoglobinopathies, erythrocyte disorders, and hemorrhagic diatheses.

The erythropoietic system plays a major role in tissue oxygenation because the erythrocytes are the primary carriers of oxygen in the form of oxyhemoglobin. Therefore, clinical entities such as abnormal hemoglobins, polycythemia, anemia, and significant changes in blood volume frequently produce alterations in various respiratory functions. The pulmonary manifestations can vary from mild respiratory illness to life-threatening emergencies with high mortality rates. Among the hemoglobinopathies, sickle cell disease is clinically the most important and commonly associated with serious pulmonary consequences, including acute chest syndrome, pneumonia, infarction due to in situ thrombosis, bone marrow fat embolism of pulmonary vasculature, bone marrow infarction, pulmonary hypertension, and other abnormalities. Hemoglobinopathies with high and low affinity for oxygen and other abnormal hemoglobinopathies occasionally cause clinically significant respiratory complications by interfering with normal tissue oxygenation. Acquired methemoglobinemia can cause alarming cyanosis and medical emergency. Erythrocyte disorders are associated with pulmonary complications, including pulmonary hypertension, alveolar fibrosis, and pulmonary dysfunction. Coagulation disorders, both the inherited and acquired types, have the potential to affect the respiratory system in the form of hemorrhage from the airways, lung parenchyma, or pulmonary hypertension. The following paragraphs describe the common pulmonary complications and manifestations associated with hemoglobinopathies, erythrocyte disorders, and coagulation abnormalities.

Erythrocytes↗

PubMed2002

Some hematological problems in Indonesia.

Indonesia consist of many island inhabited by many ethnic groups with different social economic condition. As in other parts of the world, anemia is still one of the major health problem in Indonesia. The reported anemia prevalence differs in each area and age groups, ranging from 5.4% in well nourished preschool children to 56.3% in primary school children; and 19% to 62.5% in pregnant women. The causes of anemia mostly reported were nutritional like iron deficiency, abnormal hemoglobin besides other conditions. In Cipto Mangunkusumo Hospital as the national referral hospital in Indonesia, in the adults groups, the cause of anemia reported were 14% with iron deficiency, 54% aplastic, 16% hemolytic and 16% other causes. Whereas in the child health department the cause were 29% nutritional deficiency, 31% thalassemia, 10% aplastic, 4% hemolytic and 26% other causes. Thalassemia is quite often reported in Indonesia. In 1955 Lie-Injo first reported the HbE as the most frequently found abnormality among many ethnic groups in Indonesia, ranging from 2.5% to 13.2%. In later studies the prevalence reported varies very much. It was reported as 9.5% in newborns, 22% in pregnant women, and 15.95% to 60% in athletes. The carrier frequency in some areas was between 6-10%, while the pattern of mutation varied widely within each region. Hemophilia cases in Indonesia is still not diagnosed adequately, only 530 cases were reported. The problems were lack of diagnostic laboratories and awareness. As many as 56.9% of the hemophilia patients who received cryoprecipitate were reported positive with HCV antibody. Hematological malignancy is now also became an increasing problem in Indonesia, in child health department the prevalence of leukemia was 57%, and lymphoma 13% among other malignancies. In National Cancer hospital, the prevalence leukemia as diagnosed using morphology and flowcytometry, were 51.4% AML, 19.7% B-ALL, 14.6% T-ALL, 4.5% preB-ALL, with 9.8% cases with co expression, and 30% other malignancies. Due to geographical situation, economic condition and lack of diagnostic laboratory facility many abnormalities were unable to be diagnosed properly.

Adult↗

PubMed1989

Sickled cells in synovial fluid: clue to unsuspected hemoglobinopathy.

In this report, we have described three patients who had hemarthroses, with sickled red blood cells discovered by analysis of synovial fluid. On the basis of this observation, each patient was evaluated for the presence of abnormal hemoglobins, and each was found to have a hemoglobinopathy that was previously unsuspected. These patients differ from those in other reports in that two of the three had no associated arthritic condition that could readily explain synovitis or a condition that predisposed them to bleeding into a joint. Although the accumulated evidence suggests that heterozygous hemoglobinopathies do not produce arthritic syndromes, these reports again raise that question. We cannot conclude, however, that the hemarthroses were definitively caused by the underlying hematologic abnormality. Important when synovial fluid is mixed with blood, since other medical conditions can be diagnosed if abnormal findings are detected.

Aged↗

PubMed2002

Oxygen saturation and hemoglobin A content in patients with sickle cell disease undergoing erythrocytapheresis.

Severe hypoxia occurs in patients with acute chest syndrome, and erythrocytapheresis has been shown to improve oxygenation. Patients with sickle cell anemia also have decreased baseline oxygen saturation values, but the effect of erythrocytapheresis on steady-state oxygenation has not been well studied. We investigated the changes in oxygen saturation versus hematocrit, fraction of hemoglobin A, and transfusion volume during 71 prophylactic erythrocytapheresis procedures performed in 5 stable patients with sickle cell anemia. Each patient had a history of either acute chest syndrome or stroke, but no serious events occurred while enrolled in the chronic exchange program. The oxygen saturation improved from 1% to 6% during erythrocytapheresis in each of our patients (p < 0.001) regardless of preprocedure saturation level or total hematocrit. We have shown that decreased baseline oxygen saturation in sickle cell disease is related to abnormal hemoglobin S levels, and oxygen saturation can be improved with erythrocytapheresis, independent of any change in the total hematocrit.

Adult↗

PubMed2002

The validation of an automated liquid chromatography system for the diagnosis of thalassemias and hemoglobinopathies.

Accurate and precise hemoglobin separation and the quantitation of Hb A2 and Hb F are essential for the diagnosis of the thalassemias and hemoglobinopathies. Presented in this study is the validation of the the Hb A2 assay of the HbGold analyzer, a fully automated liquid chromatography system for hemoglobin separation and quantitation. Variability of Hb A2 quantitation was quite low; the CV's of within-run, between-run and interlaboratory studies were 1.8-3.1%, 3.4-6.0% and 6.8-8.8% respectively. The results of the %Hb A2 quantitated by HbGold analyzer correlated well with those given by the Bio-Rad Variant Hb testing system (r=0.98). The application of the HbGold analyzer for the diagnosis of the thalassemia phenotypes frequently observed in Thailand is considered. In conclusion, the Hb A2 assay of the HbGold analyzer could be used for the quantitation of Hb A2 and Hb F and the presumptive identification of abnormal hemoglobins.

Automation↗

PubMed1997

beta-Thalassemia and hemoglobin types in Argentina: determination of most frequent mutations.

In order to know the spectrum of beta-thalassemia alleles and other mutations affecting the beta-globin gene, we analyzed the hemoglobin abnormalities in 24 patients from the Province of Cordoba in Argentina. Molecular screening of samples was performed by the polymerase chain reaction (PCR), using six sets of oligonucleotides to amplify fragments encompassing the whole beta-globin coding region and splice junctions, as well as the promoter and 3' untranslated regions. The altered fragments were determined by denaturing gradient gel electrophoresis (DGGE), and the corresponding mutations were identified by restriction enzyme analysis or by direct sequencing of PCR products. Using this approach, three different beta-thalassemia mutations were detected, codon 39 (C-->T), IVS-1-110 (G-->A), and IVS-1-1 (G-->A), and also the hemoglobin S trait. This is the first report of beta-thalassemia mutations described in Argentina. Our results show that these mutations are similar to those found in Spain and Italy, possibly due to the important Mediterranean migratory stream received in our country, and could be important for prenatal diagnosis of these diseases in Cordoba, Argentina.

Alleles↗

PubMed2003

[Gene diagnosis of hemoglobinopathies--the determination of breakpoints for a large deletion].

A large number of mutations leading to hemoglobinopathies(abnormal hemoglobins, thalassemias) have been discovered. Gene diagnosis for a point mutation or a deletion/insertion of a few nucleotides is now readily performed. For a large deletion, once the precise breakpoints are unraveled, the same type of deletion is promptly diagnosed by gap PCR. However, a number of new types of large deletions remain unexamined. They need meticulous Southern blot analysis and/or cloning. Here we present a new technique to determine their precise breakpoints. One of the two breakpoints needs to be first assigned within the 5-kb portion estimated by gene dosage by quantitative PCR. The other breakpoint is left unexamined. The genome DNA is digested with one of eight kinds of endonucleases and subjected to recombination with pUC18 cloning vector digested with the same endonuclease. The gap PCR is subsequently performed between the common primers of pUC18 and five arbitrary primers within the aforementioned 5-kb portion. An abnormal gap PCR product, if detected by electrophoresis, discloses precise 5' and 3' breakpoints after direct sequencing. This method successfully disclosed the breakpoints for two epsilon gamma delta beta-thalassemias, one delta beta-thalassemia and one beta-thalassmeia in a relatively short period. All are new mutations. This method uses neither cloning procedures nor Southern blot, but employs gene dosage estimation and PCR. Thus, it is relatively simple. The progress of the genome project facilitated analysis of any large deletions.

Gene Deletion↗

PubMed2001

In vitro effect of different non-steroidal anti-inflammatory drugs on human polymorphonuclear leukocyte activity measured by luminol-dependent chemiluminescence of the whole blood.

OBJECTIVE: To define the well-known variability in the effects of non-steroidal anti-inflammatory drugs and to search for predictors of such variability using an in vitro model. METHODS: Polymorphonuclear leukocyte activity was measured by luminol-dependent chemiluminescence of the whole blood using barium sulphate as a stimulator. Blood was taken from 40 apparently healthy volunteers (22 males and 18 females; their age ranged from 20-50 years). Drugs (indomethacin 10 ug/ml, aspirin 300 ug/ml, ibuprofen 25 ug/ml or diclofenac 8 ug/ml) were added into the blood of each individual in vitro. The chemiluminescence was measured in a photon counting system. RESULTS: There was a marked inter and intra individual variation in the chemiluminescence response to the 4 non-steroidal anti-inflammatory drugs, added in vitro. The variation exhibited a continuous pattern. No statistically significant correlation was found between the in vitro effect of one non-steroidal anti-inflammatory drug and the other 3 drugs, nor between the effect of each drug and factors like age, sex, weight, height, packed cell volume, hemoglobin percentage and white blood cell count. Subjects with hemoglobin-AS type (number = 9) responded mainly by enhancement to indomethacin and diclofenac. When the number of subjects rather than the average net effect was compared according to blood groups, those with blood group A showed chemiluminescence responses towards enhancement with indomethacin and diclofenac and blood group O with aspirin. A consistent pattern of enhancement and inhibition was evident; enhancements and inhibitions by any 2 drugs involve a seemingly constant proportion of subjects. CONCLUSION: Luminol-dependent chemiluminescence responses of polymorphonuclear leukocyte activity could be a good in vitro model to study the variability in response to non-steroidal anti-inflammatory drugs. Characteristics of each individual are not able to predict the pattern of variability. Abnormal hemoglobin and the type of blood group seem to be an interesting area for research.

Adult↗

PubMed1992

[S hemoglobinopathies in Argentina].

Hb S is among the most prevalent abnormal hemoglobins, its distribution being related to areas where malaria is or was once endemic. In order to establish the characteristics of sickle cell hemoglobinopathies in Argentina, all cases diagnosed in a 30-year period in the Hematology Unit of R. Gutiérrez Children's Hospital were revised. Hb S diagnoses were based minimally on a positive sickling test; in most cases, RBC and reticulocyte counts, Hb concentration, and PCV were also performed, and red cell indices were obtained according to standardized procedures. Concentrations of Hb A2 and Hb S were calculated by elution of cellulose acetate strips following electrophoresis, and Hb F was measured by alkali denaturation. Of the 925 hemoglobinopathies diagnosed, Hb S was found in 116 (12.5%): sickle-cell trait (AS) in 75, sickle-cell disease (SCD) in 8, S/beta-thalassemia (s/beta-thal) in 23, SCD or S/beta-thal in 8, S/D in 1; beta-thalassemia syndromes accounted for 785 cases (84.9%). Major findings in AS were: (a) all cases came from northern and central areas of the country, neighboring countries, and other countries (Italy and Arabic nations); (b) black ancestry was found in 15 out of 75 (20%); (c) mean hematological values were normal (Table 3), and mean Hb S level was 37.1%; (d) of 57 AS patients whose blood smears were examined, 18 showed red cell abnormalities (microcytosis and/or hypochromia); (e) AS cases with altered erythrocyte morphology had significantly lower Hb, PCV, MCH, and MCV levels when compared with those with normal morphology (Tables 5, 6).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed1989

Reliability of the determination of whole-blood oxygen affinity by means of blood-gas analyzers and multi-wavelength oximeters.

Determination of the oxygen affinity of human whole blood with the help of blood-gas analyzers and multi-wavelength oximeters is compared with an accurate method for recording hemoglobin oxygen dissociation curves (Clin Chem 1982;28:1287-92). P50 (oxygen tension at half saturation; So2 = 50%) and Hill's n (delta log [So2/(1-So2)]/delta log Po2) were determined in blood of 24 healthy donors. Three slightly different procedures were used for determination of P50 on the basis of Po2, pH, Pco2, and So2 measured with each of four different blood-gas analyzer/oximeter combinations. These methods were not able to discriminate between high and low values for P50 within the normal reference interval, but never failed to detect the high oxygen affinity of blood stored for 12 days, reflected in low values of P50. The methods thus proved suitable for detecting clinically significant deviations in oxygen affinity such as occur in patients with, e.g., abnormal hemoglobins, anemias, or carbon monoxide poisoning. Determination of Hill's n by these methods did not produce useful results.

Adult↗

PubMed1985

Evaluation of a mini-column chromatographic procedure for the measurement of hemoglobin A1c.

An ion-exchange chromatographic procedure is described which facilitates the determination of beta-chain aminoterminal modified glycated hemoglobin. The procedure includes an erythrocyte lysis reagent which eliminates the labile aldimine component (pre-A1c) and a two-stage elution step which separates HbA, 1a + b from HbA1c. This procedure also includes calibrator material which aids in correcting for temperature fluctuations during the analysis. Within-run CV's for samples with HbA1c levels between 4.0% and 13.7% were 1.4 to 3.2%. The between-run CV for an HbA1c control was 5.5%. A comparison of the present test to an ion-exchange HPLC method yielded the equation: HPLC = 0.96 (present method) -0.2% (n = 101 and r = 0.984). Two separate reference range studies yielded comparable results (n = 220/65, mean = 4.77/4.78%, S.D. = 0.68/0.55). Studies with pooled erythrocytes and various lipemic plasmas did not reveal any assay interferences. Various abnormal hemoglobins were studied for their effect on the assay.

Chromatography, Ion Exchange↗