首页 | 本学科首页   官方微博 | 高级检索  
相似文献
 共查询到20条相似文献,搜索用时 15 毫秒
1.
To study the prevalence of beta-thalassaemia and sickle cell traits in the Al-Qassim region, Saudi Arabia. The Ministry of Health of Saudi Arabia launched a countrywide programme in February 2004 to allow all Saudis planning marriage to screen their carrier status for beta-thalassaemia and sickle cell traits. This population survey of mandatory premarital screening for beta-thalassaemia and sickle cell heterozygotes provided an opportunity to estimate the prevalence of these traits in the Al-Qassim region. From February 2004 to October 2006 all individuals attending for premarital screening in that region were screened. For each subject, venous blood was taken to determine complete blood count, red cell indices and hemoglobin electrophoresis. Subjects were considered to have beta-thalassaemia trait if mean corpuscular volume was <79 fl, mean corpuscular haemoglobin <27 pg and haemoglobin A2 level >3.5%; and sickle cell trait if sickle cell haemoglobin amounted to 35 to 45% and sickling test was positive. Totally 38,153 individuals were screened during the study period. The prevalence rates of beta-thalassaemia and sickle cell traits were 0.165% (63/38,153) and 0.252% (96/38,153) respectively. Compared with results of previous studies carried out in this region on the same issue, the prevalence of sickle cell heterozygotes seems to be the same but the frequency of beta-thalassaemia carriers is substantially higher. Screening for carriers both of beta-thalassaemia and sickle cell traits is important to prevent at risk marriages through genetic counseling.  相似文献   

2.
The screening of Chinese cord blood for haemoglobinopathies   总被引:1,自引:0,他引:1  
A M Li  F T Lee  D Todd 《Human heredity》1982,32(1):62-70
The frequency of haemoglobinopathies among the Hong Kong Chinese newborn was examined by screening 932 consecutive cord blood samples by electrophoresis. The findings indicate that 49 (5.2%) had electrophoretic abnormalities, of which 39 (4.2%) demonstrated the presence of Hb Bart's. 14 of these 39 babies were re-investigated after 1 year and all were proven to carry the alpha-thalassaemia gene. This is the first study in which Chinese babies with Hb Bart's in cord blood had the diagnosis of alpha-thalassaemia trait confirmed in later life. 3 out of 4 other babies had different haemoglobin variants, namely Hb alpha Q, Hb J and Hb New York. 1 out of the 6 babies who had elevated A2 levels at birth was found to carry the beta-thalassaemia trait. None had a serious haemoglobinopathy.  相似文献   

3.
The purpose of the present study was to establish reference values for hemoglobins (Hb) using HPLC, in samples containing normal Hb (AA), sickle cell trait without alpha-thalassemia (AS), sickle cell trait with alpha-thalassemia (ASH), sickle cell anemia (SS), and Hb SC disease (SC). The blood samples were analyzed by electrophoresis, HPLC and molecular procedures. The Hb A2 mean was 4.30 +/- 0.44% in AS, 4.18 +/- 0.42% in ASH, 3.90 +/- 1.14% in SS, and 4.39 +/- 0.35% in SC. They were similar, but above the normal range. Between the AS and ASH groups, only the amount of Hb S was higher in the AS group. The Hb S mean in the AS group was 38.54 +/- 3.01% and in the ASH it was 36.54 +/- 3.76%. In the qualitative analysis, using FastMap, distinct groups were seen: AA and SS located at opposite extremes, AS and ASH with overlapping values and intermediate distribution, SC between heterozygotes and the SS group. Hb S was confirmed by allele-specific polymerase chain reaction. The Hb values established will be available for use as a reference for the Brazilian population, drawing attention to the increased levels of Hb A2, which should be considered with caution to prevent incorrect diagnoses.  相似文献   

4.
L Nowicki  L Behnken  H Martin 《Blut》1975,31(5):283-290
In 588 bloodsamples of negride natives from Mo?ambique, preferably Chuabo and Macua, haemoglobin analyses were performed. In 21 cases an increase of Hb A2 was found, indicating the presence of heterozygous beta-thalassaemia, in one case the changes in Hb-analysis were typical for beta-delta-thalassaemia, 18 samples could be shown to contain Hb S, typical for the heterozygous sickle cell trait. Futhermore in 7 cases Hb A2' was found. In two bloodsamples haemoglobin variants were observed, which according to their electrophoretical mobility were assumed to represent Hb D in one case, and Hb G in the other. In the Chuabo population the frequency of the thalassaemia gene was found to be more than twice as high as in the Macua population. In non-lepers Hb S was observed with a remarkable higher incidence than in lepers.  相似文献   

5.
OBJECTIVE--To assess the feasibility and acceptability of screening young children for iron deficiency in a deprived inner city practice and to assess the effects of a programme of dietary education. DESIGN--Prospective study of children in general practice, comparison with historical controls. SETTING--A deprived inner city practice. PATIENTS--127 Children aged 13-24 months. Findings were compared with those in 110 children of the same age studied previously. INTERVENTIONS--All mothers received dietary education antenatally and in the first year after giving birth. Screening for iron deficiency (defined as mean cell volume less than 75 fl and haemoglobin concentration less than 105 g/l) and haemoglobinopathy (when appropriate) was offered for all children attending for immunisation against measles, mumps, and rubella over 12 months; capillary blood samples were taken after immunisation. MAIN OUTCOME MEASURES--Uptake of the screening programme expressed as the percentage of all children eligible for immunisation who were screened, and the effectiveness of the dietary education as shown by the prevalence of iron deficiency in the two groups. RESULTS--Altogether, 122 of the 127 (96%) children who attended for immunisation had their haemoglobin concentration and mean cell volume measured; 90% of all children aged 13-24 months in the practice were screened. Dietary education, clinical procedures, and counselling were incorporated successfully into the clinic''s work. Ten children (8%) were iron deficient, all of whom responded to iron supplements, and eight had a haemoglobinopathy trait. In the previous study 110 children (70%) had been screened and 28 children (25%) had been iron deficient. The two groups were similar in terms of sex, social class, and ethnic group. CONCLUSIONS--Screening young children for iron deficiency, sickle cell disease, and thalassaemia when they attended for immunisation was acceptable and successful in a socially deprived inner city practice. Dietary education may have accounted for some of the reduction in the prevalence of iron deficiency that occurred over the two years.  相似文献   

6.
Colorimetric determinations of glycosylated Hb were carried out in a sample (n = 97) of sickle cell anemia patients, and in an age- and sex-matched group of individuals (n = 45) heterozygous for sickle cell anemia, from the Eastern Province of Saudi Arabia. A statistically significant increase in the value of glycosylated Hb was found in sickle cell trait (HbAS) group, when compared with those of sickle cell anemia (HbSS) and normal (HbAA) groups. Since glycosylated Hb is considered a valid indicator of long-term blood glucose, and assuming normal red blood cell survival in HbAS carriers, the increased value of glycosylated Hb may suggest that there exists a higher incidence of undiagnosed diabetes mellitus in individuals with heterozygous inheritance for sickle cell hemoglobin than homozygous sickle cell patients and normal individuals. The mechanism underlying this observation remains to be defined.  相似文献   

7.
The nucleotide triphosphate/haemoglobin (NTP/Hb) and nucleotide triphosphate/red cell (NTP/cell) ratios of rainbow trout increased during prolonged starvation. A decline was noted in blood lactic acid concentration. Red cell count, haemoglobin concentration and haematocrit also declined. Changes in mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH) and mean corpuscular haemoglobin concentration (MCHC) were found not to be significant. The NTP/Hb and NTP/cell ratios of both fed and starved trout rose seven days following a 15% reduction in blood volume by cardiac puncture. A rise in whole blood NTP concentration was found only in the bleeding response of fed animals. No significant change was noted in blood lactic acid concentration. The decline in haematocrit was significant only in the starved group. In both groups, however, red cell count and blood haemoglobin concentration fell. MCV rose whereas MCHC declined in all bled animals. Changes in MCH were not significant in either group. Negative correlations were noted between red cell count and both the NTP/Hb and NTP/cell ratios and between haemoglobin concentration and the NTP/Hb ratio. Positive correlations were seen between the two ratios and between red cell count and haemoglobin concentration.  相似文献   

8.
During an extensive investigation to determine the frequency of sickle cell and thalassaemia genes in the Saudi population, 22 cases with S/beta 0-thalassaemia were identified and the haematological, biochemical and clinical findings were compared with those in patients with sickle cell anaemia. The values of mean cell volume, mean cell haemoglobin and packed cell volume were found to be lower while all other haematological parameters including Hb A2 were higher in the S/beta 0-thalassaemia group. No statistically significant difference in the Hb F level was found between the two groups. Biochemical parameters were grouped according to organ function tests. Only slight differences were seen in the values of some parameters. The clinical data showed that, in general, patients with sickle cell anaemia had a more severe condition than the S/beta 0-thalassaemia.  相似文献   

9.
Summary In order to evaluate the polymorphism of hemoglobin in a population of Equatorial Africa, we undertook a prospective study of 146 births at a rural maternity hospital close to Brazzaville (P.R. Congo). This showed among the mothers 31 (22%) carriers of the sickle cell trait (AS), six with mutation, and two with -thalassemia triat. Among the children, 27 (18.5%) had sickle cell trait and one had sickle cell homozygosity. The frequency of the HbF Sardinia trait was 7.5%. This and other studies suggested a dilution gradient from Europe to Africa. Hemoglobin Bart's could be visually detected in 23.3% of the new-born babies. We attempted to distinguish between those infants with a high level of Hb Bart's (Bart's ++ group: 13.7%) and a group with a detectable Hb Bart's level that in our experimental conditions is between 1 and 2% (Bart's + group: 9.6%). Mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were 88.6 ±5.7 fl and 29.0±2.1 pg in the Bart's ++ group; 94.5±10.9 fl and 30.6±4.1 pg in the Bart's + group; whereas they were 101.0±8.7 fl and 33.9±2.5 pg in the control group. Since iron dificiencies are very rare in new-borns and selecting according to published data on black people as homozygous -thalassemia of the type I (-/-), individuals of the Bart's ++ group whose MCV was below 95 fl and MCV below 30 pg, the gene frequency is estimated to be 34% and that of heterozygotes (-/) 45%. These high frequencies were confirmed in AS mothers: 45% showed a significant decrease of the S fraction.  相似文献   

10.
During 1978-81 there were about 43,500 births in Birmingham, of which 10.3% were to Negroes and 22.6% to Asians. Cellulose acetate electrophoresis of red cell haemolysates from capillary specimens collected for phenylketonuria screening was performed for these babies to assess the feasibility, cost, and benefits of detecting sickle haemoglobinopathies early. Eight babies had important haemoglobinopathies; four were homozygotes for haemoglobin S (HbS), three were mixed heterozygotes for HbS and haemoglobin C (HbC), and one had haemoglobin E (HbE) and beta-thalassemia. Also, 534 (1.19%) were heterozygotes for HbS or haemoglobin D (HbD) and 205 (0.46%) for HbC or HbE, 453 (1.01%) were heterozygotes with a fast-moving band, one was a heterozygote for haemoglobin Norfolk, and one a heterozygote for both HbS and haemoglobin G Philadelphia. The cost of neonatal screening for haemoglobinopathies was 12.5 p per baby (705 pounds for each serious abnormality).  相似文献   

11.
We report normal ranges of haematological indices in healthy Corydoras paleatus from an unpolluted area. Haematological parameters studied include: erythrocyte counts (Er), haematocrit (Ht), haemoglobin concentration (Hb), mean cell volume (MCV), mean cell haemoglobin (MCH) and mean cell haemoglobin concentration (MCHC). Normal red blood parameters did not change according to maturation stages, sex or seasons. Then, we compared them with those coming from fish captured in a site polluted by sewage. Fish exposed to pollution presented significantly higher values of Er, Ht, Hb, MCH and MCHC than those captured in an unpolluted area. Discriminant analysis showed that Hb is a key parameter to point out differences between populations exposed to different environmental conditions. We suggest that haematological values of C. paleatus, registered during this study, could be used as biomarkers in future works evaluating the incidence of environmental stress on fish as well as pointing out changes in the water quality.  相似文献   

12.
The erythrocytic parameters during pregnancy and pseudopregnancy in bitches were studied and compared in 8 bitches aged 2 -3 years and weighing 10-12 kg. Blood samples were collected from the bitches before mating, during the three trimesters of pregnancy and the post partum period. The packed cell volume (PCV %), haemoglobin concentration (Hb gm/dl), red blood cell count(x106/μl) were determined using standard methods. The mean corpuscular volume (MCV) and mean corpuscular haemoglobin concentration (MCHC) were then calculated. Six of the bitches were pregnant and 2 were pseudopregnant. The results showed that in pregnant bitches, the PCV decreased significantly from the premating values of 51.37+0.94% to 34.00+8.04% during the third trimester of pregnancy (P.  相似文献   

13.
Sickle cell disease (SCD) is a group of inherited blood disorders in which clinical illness results from the presence of erythrocytes with sickled haemoglobin (HbS). Blood vessel occlusion is a fundamental pathological process in SCD. Sickle cell haemoglobin C (HbSC) disease and sickle cell anaemia (HbSS) share some pathophysiology and clinical manifestations. However, the former is generally less severe. Erythrocytes of HbSC patients have longer life span, reduced haemolysis, and lower propensity to adhere to vascular endothelium than those of their HbSS counterparts. The structure and function of erythrocytes are strongly modulated by membrane long chain polyunsaturated fatty acids (LCPUFA). We have tested the possibility that HbSC and HbSS patients have different membrane fatty acid composition consistent with the difference in their clinical severity. Steady-state patients, 9 HbSC and 28 HbSS, and 15 HbAA were studied. The HbSC patients had a higher level of linoleic (LA, P<0.05) and docosahexaenoic (DHA, P<0.05) acids, and lower arachidonic acid (AA, P<0.01) and AA/eicosapentaenoic acid (EPA) ratio (P<0.05) in erythrocyte choline phosphoglycerides (CPG) compared with the HbSS group. Similarly, the level of EPA was higher and AA/EPA ratio (P<0.01) lower in serine phosphoglycerides of the HbSC patients. In contrast to the HbSC, the HbSS group had lower levels of EPA (P<0.001), DHA (P<0.05), total n-3 metabolites and total n-3 fatty acids (P<0.001) in erythrocyte CPG compared with the healthy HbAA controls. Moreover, the HbSS patients with disease complications compared with those without complications had reduced DHA and total n-3 fatty acids (P<0.005) in erythrocyte CPG. The abnormalities in erythrocyte in LCPUFA which is manifested by an increase in AA and a decrease in EPA and DHA in HbSS relative to HbSC disease observed in this study are consistent with the contrast in clinical severity between the two entities.  相似文献   

14.
This study aimed to determine the effect of haemolysis on plasma oxidation and nitration in sickle cell disease (SCD) patients. Blood was collected from haemoglobin (Hb)A volunteers and homozygous HbSS patients who had not received blood transfusions in the last 3 months. Haemolysis was characterised by low levels of haemoglobin and haptoglobin and high levels of reticulocyte, mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH), plasma cell-free haemoglobin, bilirubin, total lactate dehydrogenase (LDH) and dominance of LDH-1 isoenzyme. Plasma 8-isoprostane, protein carbonyl and nitrotyrosine levels were measured to evaluate oxidised lipids, oxidised and nitrated proteins, respectively. Plasma nitrite-nitrate levels were also determined to assess nitric oxide (NO) production in both SCD patients and controls. Markers of haemolysis were significantly evident in SCD patients compared to controls. Plasma 8-isoprostane, protein carbonyl and nitrotyrosine levels were markedly elevated in SCD patients compared to controls. Linear regression analysis revealed a significant inverse correlation between haemoglobin and reticulocyte counts and a significant positive correlation of plasma cell-free haemoglobin with protein carbonyl and nitrotyrosine levels. The obtained data shows that increased haemolysis in SCD increases plasma protein oxidation and nitration.  相似文献   

15.
The present study investigated the effects of different dietary nettle (Urtica dioica) levels on biochemical, hematological and immunological parameters in beluga (Huso huso). Fish were divided into 4 groups before being fed for 8 weeks with 0%, 3%, 6% and 12% of nettle. The blood samples were collected on week 4 and 8. The use of nettle did not significantly change the mean cell volume, mean cell haemoglobin, lymphocytes, eosinophils, albumin, glucose, alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase and lysozyme activity on week 4 and 8. After 4 weeks, the total red blood cell (RBC) and hematocrit (Ht) showed a significant increase in 12% nettle group compared to the 3% nettle and control groups but haemoglobin (Hb) had a significant change in 12% nettle compared to the control. At the same time was not found a significant change in the mean cell haemoglobin concentration (MCHC), total white blood cell (WBC), neutrophils, respiratory burst activity (RB), total immunoglobulin (Ig) and total protein (TP), triglyceride (Tri) and cholesterol (Chol). After 8 weeks, the fish treated with nettle exhibited significantly increase in neutrophil and Hb levels compared to the control and between treatment groups, 12% nettle group shown the highest Hb while RBC and Hct values significantly rose in fish fed by 12% compared to the control. Supplementing 6% and 12% nettle increased the WBC and MCHC compared to the other groups. The group fed 12% showed a highly significant difference in RB, TP and Ig after 8 weeks. However, Tri and Chol were significantly decreased in the juvenile beluga fed by the 6% and 12% nettle diet compared to the other groups. The results suggest that by using this herb there will be an improvement in hemato-biochemical parameters and immune function of juvenile beluga.  相似文献   

16.
《Free radical research》2013,47(7):883-890
Abstract

This study aimed to determine the effect of haemolysis on plasma oxidation and nitration in sickle cell disease (SCD) patients. Blood was collected from haemoglobin (Hb)A volunteers and homozygous HbSS patients who had not received blood transfusions in the last 3 months. Haemolysis was characterised by low levels of haemoglobin and haptoglobin and high levels of reticulocyte, mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH), plasma cell-free haemoglobin, bilirubin, total lactate dehydrogenase (LDH) and dominance of LDH-1 isoenzyme. Plasma 8-isoprostane, protein carbonyl and nitrotyrosine levels were measured to evaluate oxidised lipids, oxidised and nitrated proteins, respectively. Plasma nitrite–nitrate levels were also determined to assess nitric oxide (NO) production in both SCD patients and controls. Markers of haemolysis were significantly evident in SCD patients compared to controls. Plasma 8-isoprostane, protein carbonyl and nitrotyrosine levels were markedly elevated in SCD patients compared to controls. Linear regression analysis revealed a significant inverse correlation between haemoglobin and reticulocyte counts and a significant positive correlation of plasma cell-free haemoglobin with protein carbonyl and nitrotyrosine levels. The obtained data shows that increased haemolysis in SCD increases plasma protein oxidation and nitration.  相似文献   

17.
This study reports that sickling-induced increased autoantibody binding can be demonstrated in varying degrees for deoxygenated S/beta-thalassemic (2-fold) and hemoglobin-SC (1.2-fold) erythrocytes as compared with oxygenated paired samples. In contrast, HbAS erythrocytes deoxygenated in autologous plasma exhibited less than 2% morphologic sickling and no increased IgG binding as compared with control samples. Sickling in the presence or absence of plasma increased the IgG binding capacity of S/beta-thalassemic erythrocytes, comparable to previous findings for HbSS erythrocytes, while increased IgG binding to HbSC erythrocytes was detected only after deoxygenation in plasma. It is concluded that specific IgG binding to deoxygenated S/beta-thalassemic RBCs results from subtle permanent sickling-induced alterations of the membrane surface, while IgG binding to HbSC erythrocytes sickled in plasma results from transitory membrane changes. These findings suggest that sickling in vivo will produce cumulative autoantibody binding to S/beta-thalassemic erythrocytes, a process which could lead to immune-mediated erythrocyte destruction. In contrast, comparatively small fractions of the autoantibody bound to HbSC erythrocytes in vivo would result from sickling-induced membrane alterations. These studies indicate that sickling-associated autoantibody binding in vivo will not occur for sickle cell trait (HbAS) erythrocytes protected by plasma.  相似文献   

18.
Nicotinamide adenine dinucleotide (NAD+) level is the protective factor of cardiovascular diseases (CVDs). In addition, anaemia is a risk factor of adverse cardiovascular outcomes in women. However, there are limited data about the association between NAD+ and anaemia. The aim of this study was to evaluate association of NAD+ with anaemia among women. A total of 727 females from Jidong community were included in the current analysis. NAD+ levels were tested by the cycling assay and HPLC assay using whole blood samples. Anaemia was determined by haemoglobin (Hb) concentration, and the subtypes of anaemia were further defined according to mean corpuscular volume (MCV) in blood. Multivariable logistic analysis was used to analyse the association between NAD+ levels and anaemia or its subtypes. The mean age of recruited subjects was 42.7 years. The proportion of anaemia by NAD+ levels quartiles were 19.7% (35/178), 4.8% (9/189), 3.4% (6/178) and 2.7% (5/182). Haematological parameters including haemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH), mean corpuscular haemoglobin concentration (MCHC) and red blood count (RBC) increased over NAD+ quartiles. Red cell volume distribution width (RDW) decreased over NAD+ quartiles. Compared with the lowest quartile of NAD+ levels (<27.6μM), the adjusted odds ratios with 95% confidence intervals of the top quartile were 0.15 (0.06–0.41) for anaemia, 0.05 (0.01–0.36) for microcytic anaemia and 0.37 (0.10–1.36) for normocytic anaemia respectively. Higher NAD+ levels were significantly associated with lower prevalence of anaemia among women, especially microcytic anaemia and normocytic anaemia. Haematological parameters might serve as a predictor of the blood NAD+ levels.  相似文献   

19.
1. A study of the haematology of the frog Rana esculenta including erythrocyte count (RBC), haemoglobin content (Hb), haematocrit (HCT), mean cell volume (MCV), mean corpuscular haemoglobin (MCH), mean corpuscular haemoglobin concentration (MCHC) and erythrocyte size as a function of prewinter and winter was made. 2. The RBC count and Hb were significantly higher in contrast to MCV and MCH values during prewinter in both sexes. 3. The surface area to volume ratio was higher in prewinter whereas the length to width ratio (eccentricity) of the cytosome and nucleus was significantly higher during winter in both sexes. 4. Sexual differences in the erythrocyte count, Hb content and the surface area to volume ratio were also observed. 5. The physiological significance of these observations are reported for Rana esculenta.  相似文献   

20.
A renal tubular epithelial antigen (RTE)--anti-RTE autologous immune complex nephritis associated with sickle cell anaemia (SS) has been reported, but immune complex nephritis has never been described in patients with sickle cell trait (SA). During investigation of a child with "asymptomatic proteinuria" cryoprecipitable complexes of RTE-anti-RTE were detected in the serum and granular deposits of RTE, immunoglobulins, and complement localised on the glomerular basement membranes. Morphological and ultrastructural studies showed increased mesangial matrix, sickled red blood cells in the glomeruli and vessels, and tubular and interstitial abnormalities. These findings prompted haemoglobin electrophoretic studies, which showed previously undiagnosed haemoglobin SA in this patient and her family. These observations suggest that nephritis mediated by similar immunopathogenic mechanisms may be associated with SS and SA haemoglobinopathy. Under some conditions patients with sickle cell trait may experience haemodynamic and oxygenation abnormalities, which may be aetiological factors in the immune complex nephritis associated with SS disease.  相似文献   

设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号