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

The concentration of hemoglobin in blacks was found to be 0.5 to 1.0 g/dl lower than that of income-matched whites in several large surveys. This difference could be a racial characteristic of blacks, or it might be due to a higher frequency of genetic traits such as thalassemia minor and hemoglobinopathies, or to environmental factors such as iron deficiency. To help in making this distinction, we analyzed the data from multiphasic examinations (1973 to 1975) on 1718 white, 741 black, and 315 Oriental healthy, nonindigent children between 5 and 14 years of age. In the entire population, the median hemoglobin concentration averaged 0.5 g/dl lower in blacks than in whites of both sexes (t test, P less than 0.001). The differences still averaged 0.5 g/dl (P less than 0.001) after exclusion of all those with abnormal hemoglobin by electrophoresis (Hgb S and C) and those whose mean corpuscular volume was more than 5% below the normal mean for age (to exclude iron deficiency or thalassemia minor). The data strengthen the impression that blacks normally have a concentration of hemoglobin averaging about 0.5 g/dl less than in whites. If this is the case, about 10% of normal blacks will be mistakenly designated anemic, if the same norms are applied.
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PMID:Hemoglobin concentration in white, black, and Oriental children: is there a need for separate criteria in screening for anemia? 62 13

Percentile curves were calculated for hemoglobin and mean corpuscular volume in children between 0.5 and 16 years of age. The curves were derived from several populations of non-indigent white children who lived near sea level. Subjects were excluded from the reference population if they had laboratory evidence of iron deficiency, thalassemia minor, and/or hemoglobinopathy. The final reference populations included 9,946 children for the derivation of the hemoglobin curves and 2,314 for the MCV curves. The percentile curves should be particularly applicable to the diagnosis and screening of iron deficiency and thalassemia minor.
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PMID:Percentile curves for hemoglobin and red cell volume in infancy and childhood. 75 17

Seven cases with the syndrome of thalassemia minor and pauciarticular, non-erosive, seronegative arthritis are described. Other known causes of seronegative arthritis had been excluded. There was a predilection for middlesized joints such as ankles, wrists and elbows. Usually the synovitis was asymmetrical from onset, with one to eight joints affected. Finger or toe joint were usually spared. Extraarticular synovitis such as tenosynovitis or bursitis were not observed, nor were nodules, signs of vasculitis or visceral involvement. The course of this arthritis showed chronicity and mild, persistent, non-erosive synovitis without joint effusions. X-ray revealed juxtaarticular osteoporosis of the affected joints, characterized by a diminution of the number of trabeculae (hypertrophic atrophy) combined with broadening of the singular trabeculae; this picture is typical of hemoglobinopathies. - Computed tomography showed a probable slight deficit of bone mineralization. Laboratory investigations including ESR, routine immunological tests, blood chemistry, and HLA-tissue typing were all normal. - The combination of this peculiar arthropathy with thalassemia minor would appear to be worthy of note and requires a further search among the forms of arthritis of unknown origin.
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PMID:[Arthritis in thalassemia minor]. 89 52

The most prevalent hemoglobinopathies in the world, thalassemias are hereditary microcytic anemias. Each year, 100,000 children throughout the world are born with thalassemia major, a fatal blood disease. Thalassemia minor is the carrier state for this catastrophic disease. Health practitioners can easily identify patients who may have thalassemia minor through evaluation of routine red-blood-cell indices, and diagnosis can be confirmed by Hgb A2 evaluation. Once individuals know they have thalassemia minor, a lifetime of unnecessary treatment for anemia can be avoided. Patient education should also include information about preconception counseling and partner screening. Recognition of the potential for congenital diseases and subsequent screening or referral are the responsibilities of all health care practitioners who see clients before and during their reproductive years.
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PMID:Thalassemias: simple screening for hereditary anemias. 154 63

The Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT) was applied to 4 groups of subjects: (i) Normal; (ii) Proven beta-thalassemia trait carriers; (iii) Iron deficiency anemia; and (iv) other hemoglobinopathies, to evaluate its effectiveness as a screening test for beta-thalassemia minor. The test was successful in detecting 105/110 subjects with beta-thalassemia trait. The sensitivity of the test was 95.5% and specificity was 87%. The predictive value of the positive test was 70.5% and that of the negative test was 98.3%. NESTROFT was also positive in 9/17 subjects with HbS trait, in 3/3 subjects with HbD trait and in 1/1 subjects with HbE trait. The test proved to be simple, cheap, easy to perform and adaptable for field surveys, coming close to an ideal screening test for beta-thalassemia minor.
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PMID:Evaluation of naked eye single tube red cell osmotic fragility test in detecting beta-thalassemia trait. 175 72

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

A young American woman of Thai ancestry living in Ohio and a man of Vietnamese origin living in Iowa are believed to be the first recognized hemoglobin E homozygotes residing in the western hemisphere. Both were clinically well and exhibited neither pallor nor icterus nor splenomegaly. Their blood exhibited marked microcytosis and mild erythrocytosis. Hemoglobin was 99% E and 1% F, 97% E and 3% F, respectively. These features were similar to those previously reported from Southeast Asia and Madagascar in the few well-documented reports of homozygous hemoglobin E. A 51Cr erythrocyte survival study indicated a normal t1/2 of 28 days. Also demonstrated were minimal decrease in whole blood O2 affinity and increased ratio of alpha/non-alpha globin chain synthesis. Mild hemolytic anemia is not, as usually stated, a feature of this condition, which closely mimics a very mild thalassemia minor. Anemia, when found with high proportions of hemoglobin E, should not be attributed to the homozygous hemoglobinopathy. Persons with homozygous hemoglobin E should be reassured as to its benign implications.
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PMID:Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. 739 58

Hemolysates from 100,000 people who visited the Kyushu University Hospital and affiliated hospitals during the past 15 years were screened for hemoglobinopathies using electrophoresis on thin-layer starch gel; those exhibiting an abnormality were characterized further on clinical, biochemical, and genetic grounds. Of about 97,000 adult and 3,140 cord blood samples, 29 contained electrophoretically detectable abnormalities in the heterozygous condition. Another 17 samples had quantitative changes in the levels of the minor hemoglobin components. Of the thalassemic conditions, 12 involved beta-thalassemia, 3 alpha-thalassemia, 1 delta beta-thalassemia, and 1 delta-thalassemia. Among 45 carriers of beta-thalassemia from 12 families, 5 were noted to have thalassemia intermedia since they exhibited much more severe hemolytic syndromes than those with typical beta-thalassemia minor. The frequency with which we could detect a structural variant of Hb A in the adults by electrophoresis was one in 3,800 samples. About one in 8,000 carried a beta-thalassemia gene.
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PMID:Frequency and distribution of structural variants of hemoglobin and thalassemic states in Western Japan. 741 30

Vital fluorochrome hydroethidine was used for measuring relative extra- and intracellular production of active oxygen in phagocytotic blood cells in hemoglobinopathies. Hydroethidine sensitivity to diverse free oxygen forms was studied in various model systems. Probability of false-positive results was estimated. It was established that hydroethidine interacts with superoxide anion radicals in molar ratio 1:1, that intracellular production of active oxygen forms in leukocytic mass cells stimulated by phorbol myristate acetate was enhanced in patients with major beta(+)-thalassemia and in a patient with hemoglobinopathy due to unstable hemoglobin Hb-Alesha. In thalassemia minor no significant differences compared to control were reported. Potential causes and value of the results obtained are under discussion.
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PMID:[A novel method for studying the free radical status of phagocytotic blood cells in patients with hemoglobinopathies]. 802 90


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