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1.
Hemoglobin E (beta-26Glutamic acid→Lysine) is the second most prevalent hemoglobin variant in the world. 293 blood samples from cases referred from several hospitals in the region of Andhra Pradesh were screened for the detection of hemoglobinopathies. Four samples were found to be in heterozygous state for Hb E condition. Mutation in two of these heterozygotes was analysed using a 722 base pair (bp) amplified DNA fragment from beta-globin gene and restriction enzyme Mnl 1. A 232bp DNA fragment was found to be associated with the Hb E mutation.  相似文献   

2.
The present report describes the molecular study of HbD Iran (beta) 22 Glu → Gln associated with β-Thalassemia IVS1–5 (G > C) found in India, and the first case in which mutation has been identified using mass spectrometry. Given the apparent ethnic origin and the mobility of the variant hemoglobin at alkaline pH, hemoglobin D-Punjab would be suspected, but HPLC excluded this possibility. Further characterization of hemoglobinopathy was made by using nondenaturing gel electrophoresis and matrix assisted laser desorption ionization mass spectrometry and IVS1–5 being validated by reverse dot blot hybridization followed by sequencing of the β-globin gene.  相似文献   

3.
Hemoglobin (Hb) Grey Lynn is a Hb variant caused by a substitution of Phe for Leu at position 91 of α1-globin chain, originally described in individual of unknown ethnic background. This article addresses the interaction of Hb Grey Lynn with a non-deletional α+-thalassemia found in Thailand, a hitherto un-described condition. The proband was adult Thai woman referred for investigation of mild anemia with Hb 90 g/L. Hb analyses using low pressure liquid chromatography raised a suspicion of abnormal Hb presence, which was failed to demonstrate by cellulose acetate electrophoresis and capillary electrophoresis. DNA sequencing identified a CTT (Leu) to TTT (Phe) mutation at codon 91 corresponding to the Hb Grey Lynn (Vientiane) [α91(FG3)Leu>Phe (α1) on α1-globin gene and a C deletion between codons 36 and 37 on α2-globin gene causing α+-thalassemia. As compared to those observed in a compound heterozygote for Hb Grey Lynn / α0-thalassemia reported previously, higher MCV (81.7 fL) and MCH (26.3 pg) values with a lower level of Hb Grey Lynn (19.7%) were observed in the proband. The normochromic normocytic anemia observed could be due to the interaction of Hb Grey Lynn with α+-thalassemia. The two mutations could be identified using PCR-RFLP and allele-specific PCR assays developed.  相似文献   

4.
α-Thalassemia (α-thal) is considered as the most common inherited hemoglobin disorder worldwide. The present study describes the first observation of a combination of rare α-chain variants, and β-globin gene cluster deletion. A 21-year-old woman with thalassemia trait, marked microcytosis, mild anemia, and normal range of Hb F was referred to Amirkola genetic center in the North of Iran for routine molecular test of thalassemia in the context of carrier detection and prevention of thalassemia major birth. Nucleotide sequencing revealed a novel compound heterozygosity status for two non-deletional mutations on HBA2, Hb O Indonesia (α116(GH4)Glu → Lys), and Hb Matsue–Oki (α75 (EF4) Asp → Asn), together with heterozygosity for the sicilian (δβ)0-thal mutation. This finding highlights the necessity of deep molecular investigation of thalassemia in regions where thalassemia is abundant, and present highly heterogeneous population.  相似文献   

5.
The present case report describes the molecular and proteomic based study of Hb variant HbE associated with β+ thalassemia IVS 1-1 G>T, in a juvenile diabetic patient. Given the ethnic origin and mobility of the variant hemoglobin at alkaline pH, HbE would be suspected. But hematologically and clinically abnormality being detected, HPLC and Electrophoresis not being able to characterize due to retention time and band being in region of HbA2, respectively, further characterization of hemoglobinopathy was made using MALDI and IVS 1-1 G>T being validated by reverse dot blot hybridization. Capillary electrophoresis was also employed in order to separate HbE and HbA2 bands. This case report being first of its kind, wherein a HbE/β+ thalassemia has been characterized using multiple techniques.  相似文献   

6.
Mass spectrometry provides a convenient platform for the study of different protein post translational modifications from clinical specimen. Analysis of different post translational modifications of hemoglobin like glycation and glutathionylation can provide useful information on the disease progression and the possible outcome of therapies. In the present study, we have addressed post translational modifications of hemoglobin like glutathionylation and glycation in relation to diabetes and chronic renal failure. We found that both alpha and beta chains of human hemoglobin are glycated irrespective of the extent of glycemia as evidenced by a mass increment of 162 Da. The phenomenon of glutathionylation was observed with only the beta globin chain of hemoglobin probably due to the presence of an accessible cysteine residue indicated by a mass increment of 305 Da. Also, the extent of gltuathionylation observed in the CRF patients could correlate with the severity of the oxidative stress owing to renal replacement therapies like dialysis and transplantation.  相似文献   

7.
Hemoglobin is a tetramer formed of two alpha and two beta globin chains. On exposure to high levels of blood glucose, hemoglobin gets non-enzymatically glycated at different sites in the molecule. HbA1c is formed when glucose gets added on to the N-terminal valine residue of the beta chain of hemoglobin. The development of chronic vascular complications of diabetes such as retinopathy, nephropathy and cardiovascular disease is intimately linked to the level of glycemic control attained by the individual with diabetes. We report a case of convulsions and monoplegia admitted to emergency department, showing unusually high glycated hemoglobin but plasma glucose not as high. The patient was not a known diabetic and we could not find any of the other documented conditions that are known to elevate glycated hemoglobin to such disproportionately high levels. Screening for abnormal hemoglobins was negative in the patient. Oral hypoglycemic drug treatment over 3 months and withdrawal of other medications only marginally lowered glycated hemoglobin.  相似文献   

8.
Glycosylated hemoglobin (HbA1c) determination is a powerful means for assessing the evaluation and management of patients with diabetes mellitus. Hemoglobin (Hb) variants and chemically modified derivatives of Hb can affect the accuracy of measurement of HbA1c done by various analytical methods. We report a patient with a rare variant of Hb (Hb Hope) that caused an abnormally high value of HBA1c when assayed using immunoturbidimetric assay (“Tina-quant” 2nd generation assay) and also elucidate the nature of the variant.  相似文献   

9.
We report a case of hemolytic anemia that was subsequently identified to be a case of α-thalassaemia harboring the common rightward 3.7 kb deletion/HbH. The diagnosis was based on sequential analyses using BioRad D10 HPLC, Alkaline gel electrophoresis, GPO α THAL-IC strips and the identification of the specific genetic lesion using an α Globin reverse dot blot hybridization assay. Supravital stain of RBCs helped in identifying classical HbH inclusions. In a background of a variable clinical presentation, lack of definitive hematological markers, and general under-diagnosis of α-thalassaemias we have used this case to highlight the features and sequence of techniques involved in identifying and characterizing an α-globin chain mutation, starting from a diffuse clinical history and presentation up to the identification of a specific genetic lesion involved.  相似文献   

10.
The purpose of this study was to evaluate the efficacy of multi-capillary electrophoresis instrument in clinical laboratory. An automated clinical capillary electrophoresis system was evaluated for performing serum proteins electrophoresis and immuno-fixation electrophoresis by subtraction. In this study the performance of capillary electrophoresis was compared with the cellulose acetate membrane electrophoresis and agarose gel immunofixation electrophoresis for serum proteins. The results of capillary electrophoresis and cellulose acetate membrane electrophoresis were good (r=0.89∼0.97) for protein fractions and A/G ratio except for β-gobulin fraction (r=0.60). Both within-run and day to day precisions (CVs) of assay results for 5 main fractions and A/G ratio (n=10) were between 0.3∼6.3%. The reference ranges of serum protein fractions obtained from 200 healthy individuals by cellulose acetate membrane electrophoresis were almost equal to that of capillary electrophoresis except for α-1 globulin fraction. No significant difference of electropherograms between cellulose acetate electrophoresis and capillary electrophoresis was observed in the abnormal serum such as presence of bilirubin (<20mg/dl), hemoglobin (<300 mg/dl), lipid (Intralipos <1%) and samples from patients with acute phase response, liver injury, polyclonal hyper gammaglobulinemia or M-proteinemia. The method of capillary immuno-fixation electrophoresis by subtraction showed good agreement with agarose gel immunofixation electrophoresis by subtraction identifying 30 monoclonal gammmopathy patient samples.  相似文献   

11.
Glycated hemoglobin was estimated by conventional (phenols present before addition of sulphuric acid) and modified (phenols added after dehydration of sugars by the acid), phenol (o-cresol)-sulphuric acid reactions. Even though all the four procedures could differentiate diabetic group from control group, the modified phenol-sulphuric acid method gave the most reliable, absolute values. Glycated hemoglobin levels (moles hydroxymethyl furaldehyde/mole globin) by this method were, 0.34±0.03 for normal subjects (n=20) and 0.62±0.23 for diabetics (n=23). The chemical basis of defects in the other methods is discussed.  相似文献   

12.
Glycated hemoglobin levels in hemolysate of normal and diabetic patients were determined by the 2,6-dimethylphenol:57.5% sulphuric acid conventional method and the values were 0.39±025 and 0.69±0.21 moles of hydroxymethylfurfural(HMF)/mole of globin, respectively. The mean increase in glycated hemoglobin values in diabetics (1.8fold) was highly significant (p<0.001). A good correlation (r=0.95) was found between the glycated hemoglobin values obtained by this method and the phenol:sulphuric acid method. The values obtained by former method were about 1.2–1.4 times the values by the phenol:sulphuric acid method. This study indicates that conventional 2,6-dimethylphenol: 57.5% sulphuric acid method is more sensitive for the estimation of glycated hemoglobin than any other method based on the same principle. It is less time consuming, reliable and hence can be employed for the routine laboratory estimation of glycated hemoglobin for the assessment of glycemic control.  相似文献   

13.
The aim of the present work is to understand the lipid peroxidation of RBC membrane and the spectrin protein content of RBC membrane cytoskeleton of thalassaemic carrier state (trait) of β and hemoglobin E variant (HbE). We have measured the hemoglobin (Hb), malondialdehyde (MDA) and spectrin content of RBC membrane of thalassaemic carrier. The spectrin content (α and β band) of both β and HbE carrier was not changed than normal individuals. However, lipid peroxidation of RBC membrane was significantly increased in both β and HbE trait, and Hb level was also decreased in thalassaemic carrier. It may be assumed that oxidative damage by excess lipid peroxidation may have no role on irreversible membrane damage in β thalassaemia and HbE thalassaemia carrier.  相似文献   

14.
The aim of the present work is to understand the effect of low dose of hydroxyurea (HU) therapy on oxidative damage of RBC membrane in non-transfused Eβ thalassaemia. HU was administered at a dose of 30 mg/kg/day for 90 consecutive days. The percentage of spectrin and the level of malondialdehyde (MDA), fetal hemoglobin (HbF), hemoglobin (Hb) and packed cell volume (PCV) were measured. The HbF level was significantly increased after 90 days of HU therapy. MDA level of RBC membrane was decreased. There was no change in PCV, Hb and spectrin content of RBC membrane after HU therapy for 90 days in Eβ thalassaemia. Increment of HbF in HU treated Eβ patient may have some role on the correction of oxidative damage of RBC membrane by inhibiting further degradation of spectrin and by decreasing lipid peroxidation of red cell membrane.  相似文献   

15.

Introduction:

There are a number of pre-analytical and analytical factors, which cause false results in the complete blood count. The present case identifies cold agglutinins as the cause for the mismatch between hematocrit and hemoglobin values.

Materials and methods:

70-year old female patient had a history of cerebrovascular diseases and rheumatoid arthritis. During routine laboratory examination, the patient had normal leukocyte and platelet counts; however, the hemoglobin (Hb: 105 g/L) and hematocrit (HCT: 0.214 L/L) results were discordant. Hemolysis, lipemia and cold agglutinin were evaluated as possible reasons for the mismatch between hematocrit and hemoglobin values.

Results:

First blood sample was slightly hemolysed. Redrawn sample without hemolysis or lipemia was analyzed but the mismatch became even more distinct (Hb: 104 g/L and HCT: 0.08 L/L). In this sample, the titration of the cold agglutinin was determined and found to be positive at 1:64 dilution ratios. After an incubation of the sample at 37°C for 2 hours, reversibility of agglutination was observed.

Conclusion:

We conclude that cold agglutinins may interfere with the analysis of erythrocyte and erythrocyte-related parameters (HCT, MCV, MCH and MCHC); however, Hb, leukocyte and platelet counts are not affected.  相似文献   

16.
To determine the normal range of Hemoglobin and cutoff values in healthy adults of Southern India, blood samples were analyzed for parameters of RBC and iron metabolism in 177 male and 203 female medical students. The data were compared with the American white population (NHANES III) and the WHO criteria for detection of anemia. The mean values for hemoglobin and hematocrit in male students differed minimally from American white males. However, values for parameters of iron metabolism were lower except total iron binding capacity (TIBC) which was higher. In female students, hemoglobin, hematocrit and parameters of iron metabolism were lower than American white females, except TIBC which was higher. Lower 5th percentile cutoff point (Mean − 1.645 SD) in males and females were 13.5 and 10 g/dl respectively. In conclusion, South Indian adult males have Hb values similar to American male adults, but South Indian females have considerably lower Hb levels than American females, raising the questions about appropriateness of WHO or US criteria for detection of anemia in Indian females.  相似文献   

17.
Normal iron levels are required to prevent thrombocytosis by inhibiting thrombopoiesis. Thrombocytosis is usually associated with a mild iron deficiency and is the result of a lack of inhibition of thrombopoiesis. Study participants were 430 iron deficiency anemia (IDA) patients. Ten (10) mL of venous blood were collected for the subjects. Ferritin analysis was done by ELISA method while Hemogram analysis was done by auto-analyzer. Factor V Leiden, PRTG20210A, and MTHFR C677T genotype analysis was performed by PCR–RFLP method. Among the patients, 9 were heterozygous (G>A) and 2 were homozygous (A>A) carrier of FV Leiden; while 20 were heterozygous (C>T) and 3 were homozygous (T>T) for MTHFR polymorphism. None of the patient was identified with PT mutation. Patients with thrombosis gene marker had lower hemoglobin, mean corpuscular volume, mean corpuscular haemoglobin levels, and mean corpuscular hemoglobin concentration than patients without thrombosis gene marker. Serum ferritin was elevated in subject with the absence of thrombosis gene markers. Our data suggest a high impact of inherited hypercoagulability risk factors in the pathogenesis of IDA and its complications.  相似文献   

18.
Hemoglobin Q- India (alpha) 64 Asp → His is an alpha chain variant which is generally found in heterozygous state and presents normal hematological blood picture. Here we report a rare case of HbQ-India with a thalassemic phenotype that has been analyzed using a combination of mass spectrometry, gene sequencing and PCR analysis. This combined analyses revealed the HbQ variant to be associated with a beta chain mutation, IVS 1-1 [G>T]. Though HbQ has earlier been reported with thalassemic trait using different techniques, this is the first report of a compound α and β chain Hb heterozygous mutant involving HbQ and IVS1-1 being validated using Mass Spectrometry and Reverse dot blot hybridization.  相似文献   

19.
Duchenne muscular dystrophy (DMD) is the most common X-linked disorder in children affecting 1 in 3500 males. Since, as of now, we have no treatment for DMD, carrier detection and prenatal diagnosis is the most important preventive strategy. Multiplex PCR helps in rapid detection of hot spot exonal deletions (positive in 65% of cases) as many exons can be identified in a single run. 10 children with characterstic clinical features of DMD and chorionic villus samples of 10 antenatal patients with positive family history were studied. We identified a deletion mutation in exon 49 of the dystrophin gene in a 4 yr old boy referred with signs and symptoms suggestive of DMD using primers for exons 45, 48, 49, 43, 44, 19, 3, 8, 13 and muscle promoter, subjected to multiplex polymerase chain reaction (PCR) and agarose/Nu-Sieve gel electrophoresis. These genetic methods aid in prenatal diagnosis of DMD as well as confirmation of diagnosis in children with signs and symptoms suggestive of the disease. Work done as WHO fellow in Deptt. of Genetics, All India Institute of Medical Sciences, New Delhi.  相似文献   

20.
We report a case of a diabetic, heterozygote with near normal hematology, marginally low level of hemoglobin A2(HbA2) having an increased level of hemoglobin F(HbF) that was pancellularly distributed among the red cells. BioRad DiaSTAT measurements gave a high glycated hemoglobin A1c(HbA1c) of 31.5% and the BioRad Variant analyzer recorded an HbA1c value which was very low, in discordance with the detected blood glucose levels. Flow cytometry and polymerization chain reaction (PCR) based studies were carried out which revealed the case to be that of the common hereditary persistence of fetal hemoglobin (HPFH)-3, an Asian Indian mutation. Fructosamine estimation and HbA1c by Boronate affinity chromatography were able to resolve the discordant value detected and was able to confirm the diabetes status. The case would have been a diagnostic dilemma, if reported without correlation.  相似文献   

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