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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report describes the findings of a screening program of 918 obstetric patients for thalassemia minor. Patients with erythrocyte mean corpuscular volume (MCV) less than 80 fL on initial complete blood count were evaluated with serum iron, total iron binding capacity, quantitative hemoglobin electrophoresis, and trial of iron replacement. A diagnosis of thalassemia minor was made when microcytosis persisted after exclusion of iron deficiency or other causes of erythrocyte microcytosis. Twenty-six women (2.8% of those screened) had an initial MCV less than 80 fL. Three cases of previously unsuspected thalassemia minor were detected (one alpha-thalassemia, two beta-thalassemia). Of 17 well-documented cases of iron deficiency, 16 had a hemoglobin level above 11 g/dL on initial complete blood count and would not have been otherwise detected until much later in gestation. A simple screening program can effectively identify pregnant women with unrecognized thalassemia minor and can also detect patients with iron deficiency before they become anemic.
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PMID:Antenatal screening for thalassemia minor. 335 69

The hemoglobin type of 360 adult Cambodian subjects was determined by cellulose acetate electrophoresis and microcolumn chromatography. The following distributions and frequencies of the Hb E (beta E) and the beta-thalassemia (beta-thal) genes were found: in a group of 264 Cambodians of rural areas 153 Hb A, 83 Hb AE, 19 Hb E, and nine beta-thalassemia minor (frequency beta E 0.2292, beta-thal 0.0170). In an urban group from the capital Phnom Penh there were 68 Hb A, 21 Hb AE, four Hb E, and three beta-thalassemia minor (frequency beta E 0.1510, beta-thal 0.0156). The low frequency of beta E in the urban group is probably due to Chinese admixture. Possible causes of the observed deficiency of Hb AE heterozygotes in comparison with Hardy-Weinberg equilibrium are discussed.
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PMID:Distribution of hemoglobin E and beta-thalassemia in Kampuchea (Cambodia). 342 45

The authors studied 119 children with microcytic anemia who were selected by lack of response to a month's treatment with oral iron. Family studies and retesting after further treatment with iron were done in all cases to ensure accurate diagnosis. Seventy-five cases of beta-thalassemia minor (BTM) and 40 cases of iron deficiency were identified. In all 75 cases of BTM, at least one parent had a mean cell volume (MCV) less than 79 microns. In 35 of 40 children with iron deficiency, the MCV of both parents was normal. In contrast, Hb A2 was normal in 15% (11 of 75) of children with BTM, until they received additional treatment with oral iron. The authors conclude that in children with microcytic anemia unresponsive to a month's treatment with oral iron, the MCV of the parents is superior to Hb A2 in discriminating between iron deficiency and heterozygous beta-thalassemia. Repeated testing after additional treatment with oral iron may be needed to ensure accurate diagnosis.
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PMID:Discrimination between iron deficiency and heterozygous beta-thalassemia in children. 370 8

Thalassemia is a genetic illness which exists every where in the world. In Black Africa, intermediary thalassemia and beta-thalassemia minor are mainly observed. The osteoarthropatic signs are caused by erythroid hyperplasia and overload iron. We mention the roentgenographic skeletal survey of intermediary thalassemia and other less frequent bone abnormalities. We analyse the publications concerning osteoarticular manifestations in beta-thalassemia minor. We report a clinical and anatomical case of intermediary thalassemia with gout complications.
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PMID:[Osteoarticular manifestations of thalassemia]. 382 17

Admission screening was performed on 684 Chinese-Canadian patients for thalassemia, abnormal hemoglobins and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Thirty-six healthy Chinese adults were also studied. The incidence of beta-thalassemia minor (hemoglobin A(2) greater than 3.5%) was 3.8%. Presumptive alpha-thalassemia minor (demonstration of occasional red cells containing hemoglobin H inclusion bodies) was found in 6.7%. Two patients had findings consistent with alpha-beta-thalassemia. The incidence of G-6-PD deficiency (abnormal methemoglobin reduction test) in adult males was 4.7%. In a parallel study the incidence of hemoglobin Bart's in 310 Chinese newborns was 6.8%. Two mutant hemoglobins were found - hemoglobin E and hemoglobin J (Bangkok).
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PMID:Thalassemia and G-6-PD deficiency in Chinese-Canadians: admission screening of a hospital population. 556 48

Incidence, clinical course and outcome of viral hepatitis was evaluated during a 42 mo. study in 118 Thalassaemia minor patients, compared with a paired group of 123 nonthalassaemic subjects, matched for age, sex and number of drug addicts. In the thalassaemics, which account for 13% of residents in our area, acute hepatitis showed to have an incidence of 1.3-1.7 higher than the control group. The acute course was milder and more protracted and the number of evolution into chronicity was more elevated: 19.7% vs. 11.3%, following hepatitis B, and 40.6% vs. 23.7% following NANB hepatitis. However data were statistically significant only as regard as differences between ALT (p less than or equal to 0.05, B-H; p less than or equal to 0.01, NANB-H) and IgM in the group of B hepatitis only (p less than or equal to 0.05) Differences between elongation of course were also significant in both types of hepatitis (p less than or equal to 0.01). Pathogenetic aspects such as depressed cellular immunity and hepatic disorders due to thalassaemia, which may explain the higher incidence of hepatitis and the tendency of evolution into chronicity, are discussed.
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PMID:[Hepatitis in thalassemia minor: incidence and evolution]. 644 58

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

A statistical analysis was done on the levels of Hb A2 and Hb F in 1 340 normal subjects and 356 subjects heterozygous for beta-thalassemia. This study revealed that both groups had a normal distribution of Hb A2 and a gaussologarithmic distribution of Hb F. The plotted curves show an overlapping zone between the two populations. This area lies between 3.0% and 3.5% Hb A2 and between 0.2% and 1.0% Hb F. More than 97% of the heterozygotes for beta-thalassemia have a Hb A2 level situated outside the overlapping region, which permits diagnosis. Of the remaining 3%, only the "silent carriers" do not manifest the usual hematological characteristics of beta-thalassemia minor (hypochromia, microcytosis, diminished osmotic fragility, and erythrocytes with basophilic stippling). To diagnose this group it is necessary to determine globulin chain synthesis. This test is reserved for those subjects considered as "high risks."
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PMID:[The detection of beta-thalassemia minor (author's transl)]. 720 47

A pedigree was studied in which five individuals with beta-thalassemia minor were found to have nontransfusional hemochromatosis. Three were children under the age of 10 and two were young male adults, ages 28 and 33. A 5-yr-old child without evidence of thalassemia also had hemochromatosis. Since hemochromatosis is transmitted as an HLA-linked autosomal recessive disorder, HLA haplotypes serve as markers of hemochromatosis alleles. In this pedigree, five identifiable HLA haplotypes were associated with hemochromatosis alleles. Only individuals with two hemochromatosis alleles (homozygosity) had heavy iron loads, whether beta-thalassemia minor was present or not. Individuals with beta-thalassemia minor but without a hemochromatosis allele had normal transferrin saturation. A 65-yr-old man with beta-thalassemia minor and a single hemochromatosis allele had only a minimally elevated transferrin saturation (54%). The presence of beta-thalassemia minor did not appear to accentuate the degree of iron loading expected in individuals homozygous or heterozygous for hemochromatosis alleles. Our findings suggest that nontransfusional hemochromatosis found in association with beta-thalassemia minor is due primarily to homozygosity for hemochromatosis.
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PMID:Coincidental nontransfusional iron overload and thalassemia minor: association with HLA-linked hemochromatosis. 727 12

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


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