Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0240066 (iron deficiency)
 7,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hematologic evaluation of a Nigerian obstetrical patient disclosed the presence of sickle-cell trait as well as evidence of a hemoglobin alpha-chain abnormality. Hemoglobins containing the variant alpha-chain were isolated by DEAE-cellulose column chromatography, and analysis of the purified alpha-chain demonstrated a ser replaced by cys substitution at alpha-81. The abnormal alpha-chain represented approximately 45% of the total, and hemoglobins containing this alpha-chain appeared to have normal stability and functional properties. In addition to the abnormal hemoglobins that were identified in this patient, she also was found to have persistent microcytosis in the absence of iron deficiency, and the percentage of HbS in her erythrocytes was less than that usually present in individuals with sickle cell trait. These findings, together with a reduced alpha/beta globin synthesis ratio from her peripheral blood reticulocytes, indicated that the presence of alpha-thalassemia trait. Hematologic findings from members of the patients's family suggest that an alpha-thalassemia gene may be linked to that of the structurally abnormal alpha-chain.
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PMID:Hemoglobin Nigeria (alpha-81 Ser replaced by Cys):a new variant associated with alpha-thalassemia. 735 Sep 33

We studied hematologic findings in 617 apparently healthy Georgia elementary, middle, and high school students, aged 10 to 19 years, and examined the influence of several parameters (race, sex, iron status, and genetic hemoglobin [Hb] abnormalities) on hypochromia and microcytosis, with or without anemia. Fourteen students (2%) (6 male, 8 female; 4 white, 10 black) were found to be anemic (Hb < 11.8 g/dL in boys or < 11.3 g/dL in girls). Hypochromia (mean corpuscular Hb < 25 pg) with or without microcytosis (mean corpuscular volume < 78 fL) was found in 26 students (4%). Iron deficiency was the main associated factor in white students, but in blacks genetic Hb abnormalities, especially alpha-thalassemia trait, were other predisposing factors. The overall prevalence of iron deficiency (serum ferritin < or = 12 ng/mL) was 32.4% in the entire sample population, 30.5%, among blacks, and 33.2% among whites.
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PMID:Factors associated with hypochromia and microcytosis among high school students in the southeastern United States. 797 99

Iron deficiency and iron deficiency anemia are very important disorders in childhood because, during this stage of life, the confluence of different factors can lead to iron deficiency. During childhood, there are rapid growth periods in which the need for iron increases and these needs are not always compensated for by a sufficient iron intake. We have studied a sample of 2,224 schoolchildren, both males and females, between the ages of 2 and 18 years, from five different schools in the Community of Madrid. The prevalence of anemia was studied by determining the hemoglobin, MCV and MCHC, whereas iron deficiency was assessed by measurement of serum iron. In our study population, the prevalence of iron deficiency was 4.94% and the rate of iron deficiency anemia was 0.94%. This disorder is predominant in 13 to 15 year olds (3.7% of the males and 3.53% of the females showed hemoglobin values below the reference range). In addition 6.73% of this group were iron deficient. The MCV was decreased in 2.69% of the subjects, after the exclusion of six children with thalassemia trait.
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PMID:[The prevalence of anemia in the children and adolescents of Madrid]. 1120 14

The clinical usefulness of the measurement of red cell zinc protoporphyrin (ZPP), an indicator of iron-deficient erythropoiesis, was assessed in a group of UK children undergoing investigation for red cell microcytosis. Of 213 children studied, 136 had increased ZPP values. Of these, 86 also had reduced iron stores as indicated by serum ferritin concentration. The 50 children with increased ZPP and normal ferritin values could be divided into two main groups. One group comprised 28 children who had evidence of coexistent infection or inflammatory disease. The other included 21 children who had beta-thalassemia trait (n = 19) or disease (n = 2). Among the 77 children with normal ZPP values, 22 had reduced serum ferritin concentrations and 45 did not, nor did they have evidence of beta-thalassemia. Microcytosis in some of these children could have been due to alpha-thalassemia trait. Measurement of ZPP is a simple, quick, and relatively cheap method of confirming the presence of iron-deficient erythropoiesis even when inflammation makes serum ferritin measurements unreliable. It is not as sensitive as the ferritin assay to the early stages of iron deficiency, and its specificity is reduced by the occurrence of raised values in most children with beta-thalassemia trait. Where there is microcytosis, normal values, together with normal hemoglobin A2 and serum ferritin concentrations, are likely to indicate alpha-thalassemia trait.
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PMID:Usefulness of red cell zinc protoporphyrin concentration in the investigation of microcytosis in children. 851 30

Red cell heterogeneity, as represented by the red cell distribution width (RDW), can be used to distinguish thalassemia traits from iron deficiency. Two other indices of heterogeneity, the hemoglobin distribution width and the cell hemoglobin distribution width (CHDW), are also available. In addition, the CHDW may reflect the process of cell hemoglobinization more accurately than does the RDW. In this study, recursive partitioning methods were used to compare the ability of these three indices to discriminate between thalassemia traits and other nonthalassemic conditions among hospital patients who had microcytosis. The data indicate that the CHDW can segregate patients who have either iron replete or iron deficient nonthalassemic conditions from those who have thalassemia traits. A CHDW level of less than 3.05 correctly discriminated 78.4% of patients in a mixed hospital sample. A CHDW/RBC ratio of 0.57 improved the segregation further, with a sensitivity of 79.2% and a specificity of 88.5% for the identification of a thalassemia trait.
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PMID:The erythrocyte cell hemoglobin distribution width segregates thalassemia traits from other nonthalassemic conditions with microcytosis. 912 74

Microcytosis is a common hematological finding, usually related to iron deficiency or beta-thalassemia. When both of these conditions are excluded, alpha-thalassemia must be considered in the differential diagnosis. No simple biochemical test is able to diagnose the alpha-thalassemia trait. Using PCR amplification of the breakpoint in deletional forms, and amplification of the alpha 2 gene and restriction enzyme digestion in non-deletional forms, we identified the alpha-thalassemia carrier status in 42 out of 51 (82%) patients with microcytosis or slight microcytic anemia, unrelated to iron deficiency or beta-thalassemia. Our results underline the usefulness of molecular tests in clinical practice.
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PMID:Feasibility of molecular diagnosis of alpha-thalassemia in the evaluation of microcytosis. 940 28

Microcytic erythropoiesis in case of anemia is frequently due to iron deficiency or may be due to alpha- and beta- thalassemia trait as a result of increased activity of erythropoiesis. The aim of the present study was to evaluate alterations with regard to the degree of hemoglobinization in reticulocytes in comparison with mature erythrocytes. Iron availability in subjects with anemia resulting from iron deficiency and alpha- or beta- thalassemia was studied by application of conventional as well hemocytometric parameters that have recently become available. Participants of the study were reference subjects (n=75), subjects with iron deficiency anemia (IDA, n=52) and alpha- (n=26) or beta-thalassemia trait (n=24). If compared with the reference group obviously increased RBC counts together with decreased values for RDW-sd and MCHC were established in case of alpha- and beta- thalassemia subjects. Deviations were demonstrated to be more pronounced in case of beta- thalassemia. Accelerated erythropoiesis in the case of subjects with IDA and beta-thalassemia is manifested by detection of increased results for immature reticulocyte counts. In particular in case of beta- thalassemia, elevated reticulocyte counts combined with slightly increased values for ZPP/heme ratio reflect increased activity of erythropoiesis. In the case of subjects with beta-thalassemia serum transferrin concentrations revealed slightly decreased results, whereas serum ferritin and iron concentrations demonstrated a tendency towards higher values if compared with the group of reference subjects. At a definitive MCV level, the hemoglobin content of reticulocytes is decreased in the case of IDA if compared with the alpha- or beta- thalassemia trait. For the ratio of hemoglobin content of reticulocytes and erythrocytes, obviously decreased results are demonstrated in the case of subjects with iron deficiency anemia (1.02 +/- 0.08, mean +/- SD) and in the case of beta-thalassemia (1.06 +/- 0.04) if compared with the group of reference subjects (1.11 +/- 0.02) and a-thalassemia (1.11 +/- 0.07). Evaluation of the hemoglobinization state should be performed by means of pattern recognition in concordance with characteristic profiles for parameters reflecting the actual iron state. In case of therapy the result of intervention can be appropriately monitored by longitudinal follow-up.
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PMID:Hemoglobinization and functional availability of iron for erythropoiesis in case of thalassemia and iron deficiency anemia. 1658 56

A cross-sectional method was used to study a group of 400 high school students in Kocaeli, Turkey, aged 14 to 16 years, identified among 17,812 high school students. Students from 10 high schools were selected using a random sampling method. Whole blood counts were performed as a screening test for anemia. Serum ferritin levels and, when necessary, hemoglobin electrophoresis were determined for anemic students. Iron medication was prescribed for iron deficiency and genetic counseling was given to adolescents with thalassemia trait. Out of 338 participating students (mean age, 14.72+/-0.71 y), anemia (hemoglobin <12 g/dL for girls and <13 g/dL for boys) was detected in 17/174 girls (9.7%) and 6/164 boys (3.6%). Iron deficiency anemia was detected in 20/23 (86.9%) of anemic children [15/17 (88.2%) girls and 4/6 (66.6%) boys]. Of 23 students with anemia 2 had beta-thalassemia trait and 2 had both iron deficiency, and beta-thalassemia trait. Etiology of anemia could not be defined in 1 student. The prevalence of adolescent anemia in Kocaeli is almost equal to that in developed countries.
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PMID:The prevalence of anemia in adolescents: a study from Turkey. 1677 84

Anaemia due to iron deficiency is still a widespread problem. Among adolescent girls, it will bring negative consequences on growth, school performance, morbidity and reproductive performance. This cross sectional study aimed to identify the different nutritional and iron status characteristics of young adolescent girls 10-12 years old with iron deficiency anaemia and anaemia without iron deficiency in the rural coastal area of Indonesia. Anaemic girls (N =133) were recruited out of 1358 girls from 34 elementary schools. Haemoglobin, serum ferritin, serum transferrin receptor and zinc protophorphyrin were determined for iron status, whilst weight and height were measured for their nutritional status. General characteristics and dietary intake were assessed through interview. Out of 133 anaemic subjects, 29 (21.8%) suffered from iron deficiency anaemia, which was not significantly related to age and menarche. About 50% were underweight and stunted indicating the presence of acute and chronic malnutrition. The proportion of thinness was significantly higher (P < 0.05) among subjects who suffered from iron deficiency anaemia (51.7% vs. 29.8%). Furthermore, thin subjects had a 5 fold higher risk of suffering from iron deficiency anaemia (P< 0.05) than non-thin subjects (OR: 5.1; 95%CI 1.34-19.00). Further study was recommended to explore other factors associated with anaemia and iron deficiency anaemia, such as the thalassemia trait and vitamin A deficiency. The current iron-folate supplementation program for pregnant women should be expanded to adolescent girls.
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PMID:Anaemia and iron deficiency anaemia among young adolescent girls from the peri urban coastal area of Indonesia. 1683 27

Anemia is a common health problem but control of anemia in pregnant women is less well studied. The purpose was to study prevalence of anemia in young pregnant women, correlate with indices and study significance of identification of hemoglobinopathies. Of the 120 pregnant women, Hb was less than 8 g% in 58 (44.2%). Seventy-eight (65%) had iron deficiency, 22 (18.3%) had dimorphic anemia, and 14 (11.6%) had hemolytic anemia. Megaloblastic anemia was present in 6 (5%). Of hemolytic anemia, 50% were thalassemia trait. MCV< 76 fl was observed in 88 (73.3 %) cases. MCV<76 fl and MCH < 27 pg had 100 % sensitivity and 28.7 % specificity for screening of beta-thalassemia trait. NESTROFT had comparable sensitivity but lower specificity (14.9%). Sixty-three percent (60/78) of IDA had increased RDW whereas 78 % (11/14) of hemolytic anemia had RDW value in normal range (p value< 0.05). MCV/RBC of <14 was more specific parameter (96.8%) for beta-thalassemia trait. Four high-risk couples were identified. Thus, moderate to severe anemia was observed in most pregnant women. Hemoglobinopathies should be screened in antenatal clinics to identify the couples that would need a prenatal test. A lower MCV/RBC with RDWin the normal range may be useful in screening for thalassemia trait in pregnant women.
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PMID:Spectrum of anemia in pregnant Indian women and importance of antenatal screening. 1700 88


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