Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Using a method involving elution of hemoglobin bands from cellulose acetate strips following electrophoresis of hemolysates, hemoglobin A2 (Ab A2) was quantitated in bloods from 300 healthy individuals and 904 patients. The percentage of Hb A2 was elevated in beta-thalassemia heterozygotes and some patients who had megaloblastic anemia. In the latter, the highest Hb A2 levels were observed in patients with the most severe anemia. Low Hb A2 percentages were found in iron-deficiency anemia, hereditary persistance of fetal hemoglobin, and Hb H disease. In iron-deficiency anemia, the lowest levels of Hb A2 were observed in association with the most severe anemia. Iron and folate deficiency each suppressed Hb A2 levels in beta-thalassemia heterozygotes; however, vitamin B12 deficiency did not alter the percentage of Hb A2 in thalassemia. Malignant tumors, renal and hepatic insufficiency, chronic infections and inflammation, hemolytic disease, lead poisoning, aplastic anemia, leukemia, myelofibrosis, and hypothyroidism did not change Hb A2 levels. The pathogenesis of altered Hb A2 levels and their clinical significance in various diseases are discussed.
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PMID:Hemoglobin A2 levels in health and various hematologic disorders. 26 35

A total of 4939 apparently healthy Fijian and Indian subjects living in Fiji were tested for anaemia by determination of the microhaematocrit of a sample of capillary blood. The prevalence of anaemia during childhood varied with age but was similar for Fijians and Indians of either sex. The overall prevalences were: 0-4 years, 20.3%; 5-9 years, 3.7%; 10-14 years, 23.5%. The prevalence of anaemia among Indian women (33.3%) was substantially higher than that for Indian men (6.9%), Fijian women (8.1%) or Fijian men (6.8%). Iron deficiency was the most common cause of anaemia and was established by laboratory studies in 203 (68%) of 298 anaemic subjects who were followed up. Iron deficiency was an important aetiological factor in 91 (93%) of 98 subjects with moderate or severe anaemia. Folate deficiency was found, usually in combination with iron deficiency, in 44 or 141 anaemic indian adults were followed up. Folate deficiency was uncommon in Fijian adults and among children of either race. Two cases of nutritional vitamin B12 deficiency, one case of pernicious anaemia, 6 cases of heterozygous thalassaemia and one case of heterozygous haemoglobin E were found among the anaemic Indian subjects. No cases of vitamin B12 deficiency anaemia, thalassaemia or haemoglobinopathy were detected among the Fijians. In 5 Indians and 7 Fijians the anaemia was associated with an underlying chronic disorder. This study emphasizes that in Fiji, as in other developing countries, nutritional anaemia is prevalent among asymptomatic subjects. Iron deficiency is by far the most common cause.
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PMID:The prevalence and nature of anemia among apparently normal subjects in Fiji. 52 78

Haemoglobin A2 levels were measured in 50 patients with vitamin B12 deficiency, 50 patients with folate deficiency, and six patients with combined deficiencies of these vitamins. All were normal except for three patients with vitamin B12 deficiency, who had a slightly elevated Hb A2 level; this fell to normal after vitamin B12 therapy. It is concluded that haemoglobin A2 levels are usually normal in vitamin B12 or folate deficiency. However, raised levels of haemoglobin A2 may be found, but these are not as high as is found in beta thalassaemia trait and should not cause difficutly in diagnosis.
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PMID:Haemoglobin A2 levels in vitamin B12 and folate deficiency. 71 5

The case of a young woman from Guadeloupe developing severe megaloblastic anemia is reported. She presented with fever and hemolysis (she had heterozygotic beta-thalassemia) after a six month history of diarrhea. She was shown to have folate deficiency, steatorrhea, vitamin K and B12 malabsorption. She responded well to intravenous folinic acid and tetracyclines. Diagnosis was based on the following criteria: a) no other cause of malabsorption was found despite a comprehensive inquiry, b) the pattern of the illness corresponded to the definition of disease. Three particular aspects are outlined: the acute onset, malabsorption of vitamin B12 requiring prolonged and combined treatment, and the unusual place in which the disease was contracted.
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PMID:[Tropical sprue revealed by severe anemia in a woman from Guadeloupe]. 158 43

About 120,000 infants are born each year with sickle cell disease (SCD) in Africa. The majority have Hb SS, but Hb SC and Hb S/beta+ thalassaemia are common in west Africa. The development of Plasmodium falciparum and P. malariae is partially inhibited in the Hb SS red cells, but malaria precipitates both haemolytic and infarctive crises, and is the commonest and most important cause of morbidity and mortality. The pneumococcus is likely to be the second major infectious cause of sickness and death. In one rural community, there were less than 2% of the expected number of subjects with SCD surviving beyond 5 years of age. Genetic factors improving prognosis include (1) the Senegal beta chain haplotype, which is linked to a high level of Hb F, and (2) alpha+ thalassaemia. Of environmental factors improving prognosis, the family is of first importance. The commonest age of presentation is 1-3 years. Children present with anaemic crises (malaria, splenic sequestration, folate deficiency, and possibly aplastic), infarctive crises (hand-foot syndrome, bone-pain, pulmonary and abdominal) or acute infections (malaria, pneumonia, septicaemia, meningitis, osteomyelitis). Tragically, many patients in central Africa have been infected by the human immunodeficiency virus (HIV) through blood transfusions; they present with generalised lymphadenopathy and other features of the acquired immunodeficiency syndrome (AIDS). The principles of management are (1) to ensure freedom from malaria, (2) to continue folic acid supplements, (3) to give blood transfusions only when anaemia endangers life, (4) to control pain, (5) to restore hydration, and (6) to prescribe broad spectrum antibiotics in large dosage and without delay, but only when there are definite indications, such as fever (greater than 39 degrees C), acute pulmonary disease, meningitis, and acute osteomyelitis. The advent of HIV and AIDS makes the control of SCD of even greater importance. Principles of control are (1) early diagnosis through appropriate laboratory techniques and selective screening, (2) education of parents, patients, health professionals and public, and (3) the maintenance of health at sickle cell clinics; measures must include antimalarial prophylaxis. SCD programmes should be integrated with primary health care and AIDS control programmes.
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PMID:The presentation, management and prevention of crisis in sickle cell disease in Africa. 265 Jul 73

A microcomputer program (BCDE) has been developed to analyze automated blood cell counts and differentials' similarity to normal values or to 36 disease categories. In 50 normal subjects, the analytic program listed the correct diagnosis as the first diagnosis in 49 cases (the only diagnosis in 44) and second of two diagnoses in one case. In 182 subjects with known hematologic disorders, the correct diagnosis was listed first in 134 and second or third in an additional 40. Subjects with iron deficiency, heterozygous thalassemia, immune thrombocytopenia, anemia of chronic disease, reactive thrombocytosis, acute infection, and chronic leukemia had the disorder identified as the most likely one by the analytic program with both sensitivity greater than 80% and specificity greater than 98%. Subjects with acute leukemia, folate deficiency, sickle cell anemia, cytotoxic chemotherapy, and chronic liver disease had the disorder identified as most likely by the program with a sensitivity less than 80%. In a different 11 cases with known hematologic status, a panel of 37 physicians identified the disorder(s) or normality only 72% of the time, whereas the analytic program listed the correct diagnosis first in 10 of 11 (91%). The analytic program appears useful for both triage of normal from abnormal data and for the initial differential analysis of abnormal data.
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PMID:Evaluation of BCDE, a microcomputer program to analyze automated blood counts and differentials. 330 76

Among 990 young male adolescents studied, only 7 were anemic. Three of the anemics had beta-thalassemia trait and 4 had probable alpha-thalassemia trait. Forty-six individuals with hemoglobinopathies were detected: 29 with probable alpha-thalassemia trait, 10 with beta-thalassemia trait and 7 with heterozygous HbE. Heterozygous alpha and beta-thalassemia occurred predominantly in Chinese while heterozygous HbE was found entirely in Malays. There were no cases of established iron deficiency anemia and only 1 had iron deficient erythropoiesis. Folate deficiency occurred only in 8 subjects with thalassemia traits, and no vitamin B12 deficiency was detected.
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PMID:Anemia in male adolescents in Singapore. 620 55

Plasma and red cell folate mean contents have been found to be significantly lower in 41 symptom-free beta-thalassaemia heterozygotes than in 21 controls. Such decreases must be considered as effects of an increased folate utilization caused by the enhanced total, both effective and ineffective, erythropoiesis. Since no close correlation has been found between packed cell volume and plasma or red blood cell folate levels, it seems that in 'healthy' beta-thalassaemia subjects, the degree of anaemia is not influenced by folate body reserves. However, the frequent finding of reduced red cell folate contents suggests that further folate imbalance might lead to clinically significant degrees of folate deficiency.
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PMID:Folic acid deficiency in beta-thalassaemia heterozygotes. 683 26

New automated blood cell analyzers provide an index of red cell volume distribution width (RDW) or heterogeneity and a histogram display of red cell volume distribution. We have developed a classification of red cell disorders, based on mean corpuscular volume (MCV) or red cell size, heterogeneity, and histograms, to guide diagnosis from the peripheral blood analysis. The distinction of iron deficiency anemia from heterozygous thalassemia or the anemia of chronic disease and the detection of early iron and folate deficiency is improved. Red cell volume distribution histograms identify red cell fragmentation or agglutination, dimorphic populations, and artifactual counting of lymphocytes as red cells. We recommend the use of these new variables in the initial classification of anemia by the practicing physician.
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PMID:Improved classification of anemias by MCV and RDW. 688 Oct 96

We describe a Black female who has suffered for many years from an (often) severe anemia (Hb 5-9 g/dl) with iron deficiency (serum Fe 8 microg/dl; TIBC 462 microg/dl; ferritin 7 ng/ml or less) and folate deficiency. The patient had hypermenorrhea which was appropriately treated resulting in an increase in hemoglobin level but not affecting the Fe deficiency. Splenomegaly was present, perhaps resulting from a clay-eating habit, although this was consistently denied. The patient had an alpha-thalassemia-2 (-3.7 kb) trait and a deletional hereditary persistence of fetal hemoglobin (HPFH) (type II) which were inherited from her father. Over the last six years the level of Hb F varied between 8.5 and 16% (25-29% in the father), while the G gamma value was also low (15-22% versus 32-34% in the father). Comparable reductions were seen in the relative levels of gamma-mRNA and G gamma-mRNA. These data support results published by Adams et al who showed a severe reduction in Hb F level in another HPFH heterozygote with Fe deficiency; these investigations suggested that a reduction in alpha-globin synthesis resulted in preferential formation of alpha beta dimers rather than alpha gamma dimers. Our data suggest that the decrease of Hb F and G gamma levels is due to a reduction in gamma-mRNA formation, mainly of the G gamma type, rather than through a posttranslational mechanism alone.
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PMID:Persistent iron and folate deficiency in a patient with deletional hereditary persistence of fetal hemoglobin; the effect on the relative levels of Hb F and G gamma chains and the corresponding mRNAs. 949 48


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