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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sixteen episodes of acute anaemia necessitating urgent blood transfusion have been investigated in 13 children with sickle cell anaemia. In five out of seven episodes there was evidence of increased haemolysis while in 10 out of 16 episodes a profound fall in reticulocyte count indicated marrow erythroid cell failure. Cold agglutinins active at room temperature were detected in 13 episodes, and anti-I specificity was demonstrated in 11. Warmed blood of homologous ABO and Rhesus groups was administered without complication despite difficulty with cross-matching. The exacerbation of anaemia was not due to folate lack, glucose-6-phosphate dehydrogenase deficiency or splenic sequestration, and an infectious agent appeared responsible. The degree of anaemia in homozygous sickle cell disease is usually constant during asymptomatic periods. An episode of sudden profound anaemia (anaemic crisis) may, however, result from marrow hypoplasia, an exacerbation of haemolysis, splenic sequestration, or folate deficiency.
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PMID:Anaemic crisis in sickle cell disease. 115 Aug 83

Alloimmunization to red cell antigens contributes to morbidity in transfused patients. It has been recommended that blood for sickle cell patients need not be matched for antigens other than ABO and Rh(D), as there is no greater incidence of antibody production than in other multitransfused patient populations. Post transfusion alloimmunization was studied in a group of 34 sickle cell disease patients attending a U.K. haemoglobinopathy clinic. Red cell antibodies were formed in 17.6% of the transfused patients and Rhesus and Kell antibodies accounted for 66% of this total. In order to reduce alloimmunization, a policy of performing extended red cell phenotyping on the patients, and providing blood matched for Kell, and in certain circumstances the Rhesus antigens other than Rh(D), is recommended.
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PMID:Red cell alloimmunization in sickle cell disease. 308 6

Continuous-flow blood fraction separators facilitate the efficient exchange of large volumes of plasma or red cells and therefore have clinical application in the rapid correction of abnormalities located predominantly in either of these compartments. Plasmapheresis has been successfully used in managing 2 patients with previously refractory myasthenia gravis, in reducing the antibody titre in a rhesus-sensitized woman, and in diminishing anti-A titre in a patient requiring bone marrow transplantation from an ABO-incompatible but HLA- and MLC-identical sibling. Continuous-flow red cell exchange effectively reduced the haemoglobin S concentration in an individual with sickle cell disease prior to general anaesthesia and abdominal surgery. Complications were not encountered although the procedures were carried out repetitively over prolonged periods of time. All 5 patients tolerated their exchanges without discomfort. As with any new and expensive technique, caution should attend the introduction of continuous-flow plasma or red cell exchange into clinical medicine. Careful evaluation of the safety and the benefits is needed to establish perspective and to distinguish between established and developmental indications.
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PMID:The role of continuous-flow blood fraction separators in clinical practice. 677 86

Some of the constant characteristics of Mendelian autosomal dominant diseases are non-penetrance and variable expressivity. However, sickle cell anaemia (SSA) is probably unique among the autosomal recessive diseases in the variable expressivity of its natural history. It therefore seems likely that other factors extraneous to the sickle gene locus may play a part in full phenotypic expression of SSA. To find out the possible role of red cell antigens in the variable expressivity of SSA, ABO and Rhesus antigens have been determined in 200 electrophoretically confirmed Hb SS patients and 250 sex- and age-matched Hb AA controls: the Hb SS group was subsequently divided into 'mild' and 'severe' sicklers and the results analysed. There were no statistically significant differences in the ABO and Rhesus blood group antigen distributions between the sicklers and Hb AA controls. There were also no correlations between the severity of the Hb SS disease and either the ABO or Rhesus group distributions. We conclude from these studies that ABO or Rhesus blood group antigens do not have significant moderating effect on the natural history of SSA.
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PMID:Red cell antigens in Nigerian paediatric sickle cell anaemics. 681 78

Professionals in genetics, medicine, and biology education have in recent years called for placing greater emphasis on human genetics in the education of the nation's citizenry. Since a large collegiate audience for such education is found in the general biology classroom, we elected to analyze 13 current and widely used general biology textbooks to determine their human genetics content. The analyses revealed that from 6.68 to 15.51 percent of the books' pages were devoted to genetics, but only 0.75 to 3.44 percent of the pages dealt specifically with human genetics. The number of human genetic traits discussed in the books ranged from four to 24, with a mean of 15.77. Nine different chromosome aberrations were cited, with Down, Klinefelter, and Turner syndromes being mentioned most often. Twenty autosomal dominant, fifteen autosomal recessive, and seven X-linked traits were used as examples in the various textbooks. Most frequently cited single-gene conditions were the ABO blood groups, sickle cell anemia, phenylketonuria, hemophilia, and red/green colorblindness. The books varied considerably in the emphasis given to social applications of medical genetics. Based on the findings of this study, we offer several recommendations for the improvement of the human genetics content of general biology textbooks and courses.
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PMID:An analysis of the human genetics content of 13 general biology textbooks. 732 7

The present study was carried out to determine the evidence of alloimmunization against red blood cells in 364 patients transfused in our center over a period of 4 years (1990-1993). Among these patients, 127 were thalassemic and 182 had sickle cell disease (SCD). In 55 control patients, who received blood matched for the ABO, Rhesus and Kell antigen systems from the outset of transfusion, no immunization was detected. However, in the study group, who initially received blood matched only for ABH and Rh D antigens, the frequency of alloimmunization was 7.76% (24/309). Only one antibody was detected in 15 patients (62.5%) and two or more in 9 patients (37.5%). Alloimmunization concerned the Rhesus system in 58.82% of cases and the Kell system in 26.47%, while the frequency of immunization was significantly lower in patients of less than 5 years as compared to those in the age range 5-10 years (p < 0.001).
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PMID:Red cell alloantibodies in patients with haemoglobinopathies. 789 31

Hemoglobinopathy and allied hemolytic disorders are important genetic and public health problems in Orissa. These cause high degree of hemolytic anemia, morbidity and mortality in the vulnerable populations. A total of 465 Ashram School children aged 6-15 years belonging to Bathudi, Bhumiz, Kolha and Santal tribes in six localities of Mayurbhanj district of Orissa were screened for hemoglobinopathy, glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, ABO and Rhesus blood groups serology and any other hereditary condition. The sickle cell trait (Hb AS) was detected in Santal (1.0%), Bathudi (1.0%) and Bhumiz (0.9%) tribals. No case of homozygous sickle cell disease was detected among the tribes of Mayurbhanj district. The beta-thalassemia trait was detected in Santal (8.0%), Kolha (2.0%), Bhumiz (1.7%) and other tribal (3.8%) students. Sickle cell hemoglobinopathy and beta-thalassemia are prevalent in this district among the tribes, but the frequency is very low. The prevalence of G-6-PD deficiency is considerably high (7.7-9.8%) among the tribes of Mayurbhanj district in Orissa. Out of total 43 G-6-PD deficient subjects, there were 32 males, 9 heterozygote females and 2 homozygous females. This shows that the antimalarial drugs should be administered with caution as these cause hemolytic anemia, sometimes fatal also. The distribution of ABO and Rhesus blood groups shows the preponderance of B blood group (33.8%) over O (29.6%) and 2.1% cases of Rhesus negativity were detected among the Bathudi tribe. This pattern is consistent with the characteristic features of tribal populations in India.
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PMID:Hereditary hemolytic disorders among the Ashram school children in Mayurbhanj district of Orissa. 1077 94

Therapeutic erythrocytapheresis (TEA) has been used in different diseases such as polycythemia vera (PV), secondary erythrocytosis or hemochromatosis as a process of the less cumbersome but more expensive phlebotomy. TEA is preferred in emergency conditions such as thrombocytosis or in conditions such as porphyria cutanea tarda (PCT) or erythropoietic porphyria when plasma exchange (PEX) is often combined with TEA to reduce extracellular levels of uroporphyrin which contribute to plasma hyperviscosity. TEA is often combined with drug therapy that varies from etoposide in PV to EPO and desferoxamine which are used to mobilize and reduce iron stores in hemochromatosis. Benefits from this combination may be more long lasting than expected. Nonetheless for TEA, there is no standard protocol and, clinical experience with this therapy remains highly anecdotal. Therapeutic red cell-exchange (TREX) has been used with much interest over the years, starting with the management of hemolytic disease of the newborn and later used to correct severe anemia in thalassemia patients thereby preventing iron overload. It has also been used for the management of complications of sickle cell disease such as priapism, chest syndrome, stroke, retinal, bone, splenic and hepatic infarction or in preparation for surgery by reducing HbS to less than 30%. Automated apheresis has also favored the use of TREX in conditions such as paroxysmal nocturnal hemoglobinuria and aniline poisoning, arsenic poisoning, Na chlorate intoxications and CO intoxications, hemoglobinopathies, autoimmune hemolytic anemia, reactions due to ABO incompatibility, in preparation for ABO incompatible bone marrow transplantation or for preventing anti-D immunization after the transfusion of D(+) cells to D(-) recipients. Another field of application has been in the emergency management of intraerythrocytic parasite infections such as malaria and babesiosis. Application of TREX may be wide but its real use remains limited. In our personal experience, in 16 years, only 167 TREX procedures have been carried out in a total of 13,747 therapeutic procedures. This represents only 1.21% of the total.
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PMID:Clinical application of therapeutic erythrocytapheresis (TEA). 1083 21

The dramatic advances that have taken place in recent years in the care of sick and premature infants also have been matched by a similar increase in the use of blood transfusion therapy. Haematological features indicate that a newborn has a blood volume of 85-125 ml/kg the foetal haemoglobin is 60-85% and average Hb in full term infant is 18 gm/dl. By 2-3 months it falls to 11-12 g/dl the main cause of anemia are iron poor diet, weaning diets recurrent or chronic infections and hemolytic episodes in malarious areas. The red cells transfusions are usually top up transfusions, exchange transfusions, partial exchange transfusions. Top up- are for investigational losses and correction of mild degrees of anemias, upto to 5-15 ml/kg. They comprise 90% of all neonatal transfusions and are used in low birth babies in special care units for a maximum of 9-10 episodes. The walk in donor programs once popular are not much in vogue. The threshold for transfusion is 8-10 g/dl Hb for upto 5 weeks. Exchange transfusions are done for correction of anemia, removal of bilirubin, removal of antibodies and replacement of red cells. Ideally plasma reduced red cells that are not older than 5 days are used. It is prepared by removal of 120 ml of standard whole blood donation. The advantage of fresh cells is that hyperkalemia is avoided and good post transfusion survival acceptable red cell oxygen affinity. However it has to be screened for sickle cell disease and G6PD deficiency. Indications for exchange transfusion are kernicterus, neonatal hemolysis, G6PD deficiency, ARDS, neonatal sepsis, DIC and neonatal isoimmune thrombocytopaenia. Complications include over transfusion, perforation of major vessels, hypocalcaemia, citrate toxicity, hypothermia, hypoglycaemia, thrombocytopenia, necrotizing enterocolitis, GVHD, bacterial, viral infections. Partial exchange transfusions are done for symptomatic anemia, where Hb<10 g/dl, it is indicated in polycythemia and hyperviscosity syndromes. Exchange volume = Blood volume x (observed Hct-Desired HCt) divided observed Hct. Points to consider-there is weak expression of ABO antigens so particular care while grouping. Transfusing volumes should be 2-5 ml/kg/hour in paediatric bags of 50-100 ml with infusion devices. Platelet transfusion are indicated in neonatal throbocytopaenia, thrombocytopaenia due to sepsis, DIC, bacterial pathogens, CMV, TORCHS, Obstetric conditions such as pre eclampsia, intrauterine death abruption placenta birth injury hypoxia schock neonatal iso immune thrombocytopaenia and maternal ITP. Administration 1 RDE/pack per 2.5 kg single dose of fresh platelets less than 24hrs which contains 55 x 10(9) cells. This also contributes fresh plasma so is useful for coagulation defects also, though there is a risk of CMV and GVHD due to leucocyte contamination. Granulocyte concentrate; Gravity leucopheresis-1:8 ratio of 60 ml of 6% HES made to stand for 1hr.
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PMID:Component therapy. 1451 88

This prospective study was designed to provide the frequencies of the haemoglobin genotypes, ABO and Rh blood groups and their effects on the haematocrit values among pregnant women in Port Harcourt. One hundred and eighty (180) pregnant women at their first clinic attendance and in their first pregnancy (parity - 0) participated in this study. The overall frequencies obtained for ABO and Rh blood groups were: 26.67% for group A, 18.33% for B, 2.22% for AB and 52.78% for O. Rh D positive was 95.56% while Rh D negative was 4.44%. The frequencies of haemoglobin genotypes were 70.00% for HbAA, 29.44% for HbAS and 0.56% for HbSS. HbAC and SC did not occur in this study population. The mean haematocrit value was 34.64%. This was found to be independent of the ABO and Rh blood groups (P > 0.05). On the other hand, haemoglobin genotypes were found to exert significant effects on the haematocrit values (F = 8.01, P = 0.0005). No significant relationship was found to exist between age and the haematocrit values. (F = 0.91, P > 0.05). Since pregnancy in sickle cell disease is associated with morbidity, proper antenatal monitoring and counselling will be necessary to prevent fatal outcomes.
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PMID:An assessment of the clinical utility of routine antenatal screening of pregnant women at first clinic attendance for haemoglobin genotypes, haematocrit, ABO and Rh blood groups in Port Harcourt, Nigeria. 1662 95


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