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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We considered the possible application of globin chain separation on cellulose acetate strips electrophoresis to thalassemia screening. The method shows good accuracy and reproducibility when compared with the chromatographic method on CM-cellulose. The electrophoretic method could be recommended as the simplest test of hemoglobin biosynthesis in countries where high incidence of thalassemic syndromes occurs.
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PMID:[Applicability of cellulose acetate electrophoresis of globin chains to thalassemia screening]. 728 9

Application of cellulose acetate electrophoresis to globin chain separation for antenatal diagnosis of beta thalassemia has been studied. A good correlation between an electrophoretic and a chromatographic method on carboxymethylcellulose was found and the diagnoses suggested by both methods were always coincident. The electrophoretic method was also utilized for HbS/beta-thalassemia diagnosis.
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PMID:Application of cellulose acetate electrophoresis to globin chain separation for antenatal diagnosis of beta thalassemia. 729 82

Even if different methods were employed in Hb A2 level detection, so far the borderline values between normal and pathological "range" depend on the different laboratories and techniques. The Authors report here an investigation carried out on Hb A2 levels using two different methods: the chromatographic technique by DEAE cellulose column, and the cellulose acetate electrophoresis. The investigation regards 46 normal and 50 beta-thalassemia obligate carrier samples. The results demonstrate that chromatographic technique provides a lowest misclassification rate with a greater reliability. Therefore the use of the microchromatographic procedure for beta-thalassemia screening is recommended.
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PMID:[HbA2 evaluation: comparison between microchromatography on a DEAE cellulose column and conventional cellulose acetate electrophoresis]. 730 17

The increased level of HbA2 is a reliable marker of heterozygous beta-thalassaemia. The levels of HbA2 measured by three different methods were compared and the ranges for the normal and for the heterozygous beta-thalassaemia were assessed. The levels of HbA2 2.76 +/- 0.47% for normal (30 blood donors) and 4.62 +/- 0.77% for beta-thalassaemia (50 patients) were obtained by the chromatographic method 2.61 +/- 0.42% HbA2 for normal (30 blood donors) and 5.82 +/- 0.89% HbA2 for beta-thalassaemia (46 patients) were assessed by electrophoresis on hydragel (Sebia) and 2.8 +/- 0.62% HbA2 for normal (30 blood donors) and 6.04 +/- 0.96% HbA2 (47 patients) were found when using cellulose acetate electrophoresis. An increased level of foetal Hb was found in nine patients with beta-thalassaemia. The diagnosis of beta-thalassaemia was confirmed by molecular genetic methods in all cases with an elevated HbA2 level, while a normal HbA2 level did not rule out heterozygous beta-thalassaemia.
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PMID:[Diagnosis of beta-thalassemia on the basis of HbA2 determination]. 765 59

The prevalence of enuresis and management options for this condition were studied in our population of sickle cell patients. A total of 91 active patients (6 to 21 years old) followed at our regional sickle cell center was surveyed for the symptoms of primary nocturnal enuresis. Of the 91 patients 27 (29.6%) had primary nocturnal enuresis. Of those with enuresis 17 had homozygous sickle cell anemia, 5 had hemoglobin sickle cell disease, 4 had sickle cell beta + thalassemia and 1 had sickle cell beta zero-thalassemia. Of 10 patients who elected to receive intranasal desmopressin acetate 6 (60%) had complete or partial resolution of nocturnal enuresis. Our data confirm the high prevalence of nocturnal enuresis in patients with sickle cell disease and support the role of desmopressin acetate in the treatment of these patients.
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PMID:Enuresis in sickle cell disease. 775 79

Vital fluorochrome hydroethidine was used for measuring relative extra- and intracellular production of active oxygen in phagocytotic blood cells in hemoglobinopathies. Hydroethidine sensitivity to diverse free oxygen forms was studied in various model systems. Probability of false-positive results was estimated. It was established that hydroethidine interacts with superoxide anion radicals in molar ratio 1:1, that intracellular production of active oxygen forms in leukocytic mass cells stimulated by phorbol myristate acetate was enhanced in patients with major beta(+)-thalassemia and in a patient with hemoglobinopathy due to unstable hemoglobin Hb-Alesha. In thalassemia minor no significant differences compared to control were reported. Potential causes and value of the results obtained are under discussion.
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PMID:[A novel method for studying the free radical status of phagocytotic blood cells in patients with hemoglobinopathies]. 802 90

A closed low pressure liquid chromatography system (LPLC) is described which is suitable for haemoglobinopathy screening. The system (Glycomat) was originally developed for the quantitation of the glycated haemoglobin (HbA1). The same biochemical principles have been applied to the separation of haemoglobin A2 (HbA2) and haemoglobin variants. The instrument offers three modes of use including a fast haemoglobin elution, a variant screen and a HbA2 assay for thalassaemia screening. The fast screen isolates all of the common haemoglobin variants except HbE which elutes with HbA. This mode is a more rapid alternative to the Sickledex test. The variant screen produces a wider separation of abnormal variants giving an identification and quantitation for each. The HbA2 assay separates this minor fraction from all other haemoglobins giving an accurate percentage. Abnormal variants are also separated. To validate the HbA2 assay 252 samples were assayed by the cellulose acetate electrophoresis/elution method and LPLC with a correlation of 0.932. The system provides an accurate and sensitive alternative to traditional manual chromatography and electrophoresis methods. The automated sampler allows batches from 1-99 samples to be processed with significant savings in operator time.
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PMID:Use of a low pressure liquid chromatography system for haemoglobinopathy screening. 834 74

Sickle cell disease covers a group of conditions in which pathology may be attributed to the presence of sickle hemoglobin (HbS). The identification of HbS and other variants including those in combination with HbS is commonly achieved by cellulose acetate electrophoresis at alkaline pH. Because many hemoglobin variants with similar charges have similar electrophoretic migration patterns, they are difficult to differentiate by electrophoresis. The HemoCard assays address this concern through the use of monoclonal antibodies capable of specifically recognizing the unique amino acid substitution in the variant hemoglobin. The panel of HemoCard monoclonal antibodies confirms the absence and presence of HbA, HbC, HbE, HbS, and other sickling hemoglobin variants. The combination of alkaline cellulose acetate electrophoresis and HemoCard assays allows the technologist to reach a final conformation of both common and much less common sickle cell disease genotypes, combinations of HbS with other hemoglobins that ordinarily do not produce sickle cell disease, and other clinically important hemoglobinopathies including HbE/beta-thalassemia and hemoglobin C disease.
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PMID:Utilization of monoclonal-antibody-based assay (HemoCard in screening for and differentiating between genotypes of sickle cell disease and other hemoglobinopathies. 858 4

Thalassemia hemoglobinopathies and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency are prevalent in Thailand. We studied the prevalence of these disorders from 1,000 cord bloods collected during 14 months period, using EDTA as anticoagulant. Red blood cell G-6-PD quantitative assay was performed in all male subjects. Nine hundred and eighty five specimens were available for hemoglobin (Hb) typing by starch gel electrophoresis. Further evaluation by cellulose acetate electrophoresis and follow up were made in the cases who had Hb E and/or high level of Hb Bart's. It was found that out of 505 males, 61 cases (12.08%) had G-6-PD deficiency. Among 985 cases studied for Hb typing, 61.92% revealed normal Hb type AF while Hb E was present in 18.68% and Hb Bart's designated alpha-thalassemias were present in 25.18% respectively. Of these 985 cases, 18.78% had low Hb Bart's level ie detectable to 8.2% consistent with alpha-thal2, Hb Constant Spring (CS) or alpha-thal1 trait. Ten cases (1.02%) had high levels of Hb Bart's ranging from 16.1-35% without or with Hb CS and E, and further follow-up revealed homozygous Hb CS, Hb A-E-Bart's, Hb H and Hb H with Hb CS disease. The other 53 cases (5.38%) had low level of Hb Bart's with Hb E consistent with alpha-thalassemia trait with Hb E trait. There were 127 cases (12.89%) who had only Hb E trait and 3 cases (0.3%) who had Hb F and E without Hb A initially.
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PMID:Prevalence of hemoglobin E, alpha-thalassemia and glucose-6-phosphate dehydrogenase deficiency in 1,000 cord bloods studied in Bangkok. 862 22

Symptomatic alpha-thalassemia (alpha-thal) as found in South-East Asia is uncommon in India. However, the presence of Hb Bart's in cord blood samples has been reported from different parts of India and the prevalence of alpha-thal has ranged from 0.5 to 18% by different electrophoretic techniques. The methodology utilised has ranged from paper electrophoresis to isoelectric focussing (IEF). We screened 798 cord bloods for the presence of Hb Bart's by cellulose acetate electrophoresis and found a prevalence rate of alpha-thal of 15.3% in a heterogenous population in Bombay. A comparison of four different electrophoretic techniques for detection of Hb Bart's in 138 neonates showed that cellulose acetate and starch gel electrophoresis were by and large comparable and only a little less sensitive than IEF. Paper electrophoresis used at many centers in India was most insensitive. As alpha-genotyping is not possible at most centers in the country, it is suggested that a simple cellulose acetate electrophoresis would be the method of choice for screening neonates for alpha-thal in India. As a part of our follow-up study, alpha-genotyping was done by Southern blot hybridization in 24 cases who had shown variable levels of Hb Bart's at birth. The rightward deletion (-alpha3.7/) either in a heterozygous or homozygous condition was the only gene defect encountered in this preliminary study. However, 7 of 24 cases (29.17%) showed no correlation between Hb Bart's level and alpha-genotypes.
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PMID:Is cellulose acetate electrophoresis a suitable technique for detection of Hb Bart's at birth? 923 3


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