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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The presence of blister cells in the peripheral blood of patients with sickle hemoglobinopathies was investigated to assess whether their presence was predictive of the patients' clinical state and would be diagnostically useful. Peripheral blood smears (PBS) were examined from 23 children with sickle hemoglobinopathies, 20 children with iron deficiency, and 29 healthy control children. The number of blister cells per 1,000 red blood cells was then correlated with the child's health state: well, minor illness, and illness requiring hospitalization. The presence or number of blister cells was found to be unreliable to predict the state of health or the cause of a pulmonary insult in children with sickle hemoglobinopathies.
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PMID:Blister cells in children with sickle hemoglobinopathies. 278 58

With the recent immigration of Southeast Asians to Canada, hemoglobin E has become a frequent diagnosis. The clinical and hematologic findings in 42 children (mean age 4.3 years) with hemoglobin E are presented. There were 33 heterozygotes (having hemoglobin E trait), 6 homozygotes (having hemoglobin EE) and 3 double heterozygotes (having hemoglobin E-beta-thalassemia). The heterozygotes had low-normal hemoglobin levels and mean corpuscular volumes; coexisting iron deficiency, present in 62% of these children, resulted in substantially lower hemoglobin levels, very low mean corpuscular volumes and lower than expected levels of hemoglobin E on electrophoresis. The children with hemoglobin EE were only slightly anemic, but those with hemoglobin E-beta-thalassemia had severe anemia and required long-term transfusion therapy. Nutritional factors and parasitic infestations were the main causes of iron depletion, which was common, particularly in children less than 2 years old (87%). Physicians of patients of Southeast Asian origin should be aware of the clinical and hematologic presentation of these hemoglobinopathies.
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PMID:Hemoglobin E: a common hemoglobinopathy among children of Southeast Asian origin. 359 33

The red blood cell distribution width index (RDW) was determined in a group of anemic male patients and normal male blood donors. Elevated mean RDW values were found in the anemic patients, with the highest value seen in sickle cell anemia, sickle cell-beta thalassemia, sickle cell trait, beta-thalassemia trait, and iron deficiency in decreasing order of magnitude. The mean RDW of the normal male subjects was 11.3. It was found that the RDW was proportional to the reticulocyte count, with the highest values in the patients with the highest reticulocyte count (sickle cell anemia). One clinical value of the RDW therefore may lie in its capacity for reflecting active erythropoiesis. For example, patients with normal or near-normal hemoglobin and with high RDWs may be suspected of having an elevated reticulocyte count that may indicate a hemoglobinopathy, such as sickle cell trait or thalassemia trait.
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PMID:Red blood cell distribution width index in some hematologic diseases. 396 61

The early identification of some clinically significant hemoglobinopathies and the precise differentiation of hemoglobin variants are important to provide early comprehensive medical care to prevent some serious complications, assess prognosis, and offer genetic counseling. Laboratory approaches to screen for and confirm inherited hemoglobinopathies in children are presented. Methods include routine screening procedures as well as techniques available in research laboratories, with emphasis on readily available procedures. Since microcytic hypochromic anemia is the most common type of anemia in children under two years, attention is given to the differentiation of thalassemia trait from iron deficiency. The step-by-step work-up is also described for differentiating beta-thalassemia from alpha-thalassemia.
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PMID:Laboratory identification of inherited hemoglobinopathies in children. 616 96

Enlarged spleen, fever, increased susceptibility to infections, and thrombocytosis, are manifestations of iron deficiency which are relatively specific of pediatric patients. Iron deficiency anemia is part of everyday pediatrics. Patients are referred to the hematologist in the following situations: 1) Therapy is ineffective for one of the following reasons: the hypochromic anemia is not caused by iron deficiency (hemoglobinopathies); iron is less efficiently used because of transferrin deficiency or infectious, inflammatory or cancerous disease; iron therapy is inadequate either because of insufficient dosage or of suboptimal duration. 2) A relapse occurs in spite of adequate therapy. Before investigating the digestive tract, abnormal hemostasis. Osler-Weber-Rendu syndrome and pulmonary hemosiderosis should be considered. 3) Iron deficiency anemia is less common in adolescents. This condition, known as chlorosis, results mainly from increased needs, unbalanced diet, and onset of menses. In some cases no explanation is found but iron therapy leads to recovery. 4) Difficult problems arise in patients with complex anemias: iron deficiency with folic acid or vitamin B12 deficiency; hyposideremia complicating one of the hemoglobinopathies.
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PMID:[Iron-deficiency anemia. Hematologist's viewpoint]. 629 49

Recent immigrants from Southeast Asia were screened for hematologic abnormalities using a multichannel cell counter (Coulter S), peripheral smear, free erythrocyte protoporphyrin (FEP), isoelectric focusing, and a qualitative screen for glucose-6-phosphate dehydrogenase deficiency. Hematologic abnormalities were further defined by hemoglobin electrophoresis, globin electrophoresis, HbA2 levels, and HbF levels. Of the 189 adults studied, 68 (36 percent) were hematologically abnormal, including 28 hemoglobin E (HbE) heterozygotes, six HbE homozygotes, 14 with alpha-thalassemia minor, and 10 with presumptive iron deficiency. Of the 54 people with microcytic (MCV less than 80fl) red blood cells (RBC), 52 had evidence of HbE or thalassemia and two had iron deficiency alone; five had both iron deficiency and a hemoglobinopathy. Homozygosity for HbE results in an asymptomatic condition similar to thalassemia minor with microcytic RBC, large numbers of target cells, normal or slightly reduced hematocrit and greater than 90 percent HbE. People heterozygous for HbE are asymptomatic and have hematologic findings similar to thalassemia minor with slightly reduced or low normal MCV and 25 to 35 percent HbE.
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PMID:Hematologic findings in Southeast Asian immigrants with particular reference to hemoglobin E. 662 29

Hematologic abnormalities in childhood lead poisoning may be due, in part, to the presence of other disorders, such as iron deficiency or thalassemia minor. In order to reassess increased lead burden as a cause of microcytic anemia, we studied 58 children with class III or IV lead poisoning, normal iron stores, and no inherited hemoglobinopathy. Anemia occurred in 12% and microcytosis in 21% of these children. The combination of anemia and microcytosis was found in only one of 58 patients (2%). When only children with class IV lead poisoning were studied, the occurrence of microcytosis increased to 46%. However, the combination of microcytosis and anemia was found in only one of these 13 more severely affected patients. Microcytic anemia was similarly uncommon in children with either blood lead concentration greater than or equal to 50 microgram/100 ml. These data indicate that microcytosis and anemia occur much less commonly than previously reported in childhood lead poisoning uncomplicated by other hematologic disorders.
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PMID:Reassessment of the microcytic anemia of lead poisoning. 723 54

To permit quantitative study of red cell volume heterogeneity, the coefficient of variation (CV) of erythrocyte volume was determined in blood samples from 868 subjects, including normal individuals and those with various hematologic disorders. In groups of subjects with various hemoglobinopathies, CV increased above normal in parallel with the presence and degree of anemia. However, all subjects with iron, folate, or vitamin B12 deficiency showed marked increase in CV (anisocytosis): increased CV accompanied even early iron deficiency not yet associated anemia or microcytosis. Effects of other conditions on CV also were studied.
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PMID:Heterogeneity of red cell volume: quantitation, clinical correlations, and possible mechanisms. 738 45

A survey on the prevalence of anemia, iron deficiency, and hemoglobinopathies (Hb S and beta thalassemia) was carried out in an ethnically mixed and carefully registered population of 45,000 living in an area in the Southern Turkey. A total of 1223 subjects (representing the population with respect to sex and age group) were surveyed. The rate of anemia was found to be 16.9% overall with a highest prevalence of 18.3% in the children (0-2 ages) and 16.3% in the 14+ age group. The prevalence of iron deficiency using low transferrin saturation as criteria was found to be 17.2% overall, being 48.0% in the infant group, 19.6% in the children, and 14.7% in the 14+ age group. The rate of Hb S using the sickling test was found to be 3.9% in the entire population without separating for ethnic groups. It was more prevalent (9.6%) in the Arabic speaking and not found at all in the Kurdish speaking people. The rate of beta thalassemia with a high HbA2 was 3.4% overall and highest (7.1%) in the Kurdish speaking people.
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PMID:The frequency of anaemia, iron deficiency, hemoglobin S and beta thalassemia in the south of Turkey. 767 73

The main biological sign of inflammation is an increase in erythrocyte sedimentation rate (ESR). However it can be falsely normal (polyglobulia, cryoglobulinemia, hemoglobinopathy) or spuriously high in the absence of inflammation (anemia, hypergammaglobulinemia). In cases of doubt, the acute phase reactants (APR) should be measured: C reactive protein (CRP), fibrinogen, haptoglobin, alpha 1 acid glycoprotein. They have different kinetics of variation and various degrees of increase (some--the so called "negative" proteins--actually decrease). Several pitfalls can be avoided if it is remembered that the APR themselves can be modified by causes other than inflammation: low fibrinogen in intravascular coagulation, very low haptoglobin in hemolysis, raised orosomucoide in renal insufficiency and elevated transferrin in iron deficiency. Furthermore liver insufficiency or leakage through the kidney or gut lesions can lower them. In some patients, the observed levels of APR are thus the result of opposite trends. In complex cases, these pathological mechanisms are more apparent on profiles which express the concomitant blood levels of several APR in a normalized or comparative manner. In medical practice, ESR serves first and foremost to detect an inflammatory syndrome. CRP is prominent among the APR because its changes show a great sensitivity, are independant of those of ESR and have a time course fitting closely that of the inflammatory processes. Profiles yield detailed information but rarely provide major evidence in the quest of a diagnosis or the choice of a treatment. Because of their cost they are to be used only in difficult cases.
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PMID:[From sedimentation rate to inflammation profile]. 784 87


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