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)

A new alpha chain hemoglobin variant, Hb Hobart, alpha 20(Bl)His----Arg, was detected in a 60-year-old female of British nationality. The proposita had a history of severe rheumatoid arthritis and had been treated for many years for a refractory microcytic anemia and/or iron deficiency. A hemoglobin electrophoresis screen indicated the presence of a hemoglobin variant, with electrophoretic characteristics similar to a Hb Lepore. However, the level of the variant (17.9%) and the presence of a minor variant Hb A2 band (0.4%) suggested that further investigation was indicated. The variant hemoglobin was purified by column chromatography and the alpha chain subjected to aminoethylation and tryptic digestion. Peptide mapping and amino acid analysis indicated that the histidine residue 20 had been substituted by an arginine residue. The substitution in Hb Hobart is at the first residue in the B Helix of the alpha chain of hemoglobin. As this is an externally placed amino acid in the hemoglobin molecule, a substitution at this position of the hemoglobin molecule would not be expected to cause any functional problems. A family study has shown that at least three other relatives are heterozygous for Hb Hobart. These family members have normal hematological findings.
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PMID:Hemoglobin Hobart or alpha 20(Bl)His----Arg: a new alpha chain hemoglobin variant. 365 64

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

A review of 162 patients with Hodgkin disease disclosed 36 with microcytic anemia (mean corpuscular hemoglobin values [MCV] less than 80 fl). Three patients had iron deficiency, and one had beta-thalassemia. Of the remaining 32 patients, 24 had microcytic anemia at the time of diagnosis of Hodgkin disease, and ten, including two patients with this finding initially, developed microcytic anemia in association with recurrence of Hodgkin disease. Seven patients with Hodgkin disease and normal MCV had normal alpha-to-beta-globin chain ratios (1.0 +/- 0.14). Seven patients with Hodgkin disease and MCV less than 80 fl had significantly lower alpha-to-beta chain ratios (0.66 +/- 0.05). Twelve normal controls and four with iron-deficiency anemia and MCV less than 80 fl had normal ratios. Anemia was corrected, and MCV returned to normal in all patients who responded to therapy for Hodgkin disease. In the two patients studied sequentially, abnormal alpha-to-beta-chain ratio was corrected along with the anemia.
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PMID:Microcytosis in Hodgkin disease associated with unbalanced globin chain synthesis. 375 67

In iron deficiency anaemia basic red cell content of ferritin is appreciably reduced. This variable was determined in 62 patients with rheumatoid arthritis to evaluate conventional laboratory indices for iron deficiency in the anaemia of rheumatoid arthritis. For 23 patients with rheumatoid arthritis and normocytic anaemia irrespective of plasma ferritin concentration, red cell ferritin content did not differ significantly from that for non-anaemic patients with rheumatoid arthritis. For 27 patients with rheumatoid arthritis and microcytic anaemia, the mean red cell ferritin content for patients with a plasma ferritin concentration in the 13-110 micrograms/l range was appreciably reduced. It was indistinguishable from that for patients with rheumatoid arthritis and classical iron deficiency anaemia, indicated by plasma ferritin concentrations of less than 12 micrograms/l. In contrast, the mean red cell ferritin content for patients with rheumatoid arthritis, microcytic anaemia, and plasma ferritin concentrations above 110 micrograms/l did not differ from that for patients with rheumatoid arthritis and normocytic anaemia. Oral treatment with iron in patients with rheumatoid arthritis, microcytic anaemia, and appreciably reduced red cell ferritin concentrations was accompanied by significant increases in haemoglobin concentration (p less than 0.01), mean corpuscular volume (p less than 0.01), and red cell ferritin contents (p less than 0.05). This treatment, however, did not produce any appreciable change in haemoglobin concentration in patients with rheumatoid arthritis, normocytic anaemia, and normal red cell ferritin contents. These findings suggest that the indices for iron deficiency in patients with rheumatoid arthritis and anaemia should include peripheral blood microcytosis together with a plasma ferritin concentration of less than 110 micrograms/l.
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PMID:Red cell ferritin content: a re-evaluation of indices for iron deficiency in the anaemia of rheumatoid arthritis. 643 23

The number concentration of erythrocytes in blood (RBC) and the discrimination functions MCV/RBC, (MCV)2 X MCH, DF = (MCV/fl) - (RBC/10(12).1(-1] - (8.1 X Hb mmol.1(-1] - 3.4 have been advocated as useful methods in screening programmes for thalassaemia. In the present work we attempted to estimate the value of each of these methods in screening programmes for thalassaemia and/or iron deficiency and in differentiating between these two conditions. One hundred and twenty-six subjects suffering either from iron deficiency anaemia or heterozygous beta, delta beta, 'silent' beta and alpha 1 thalassaemia were classified by using these methods. Forty healthy subjects served as controls. The RBC was greater than 5.5 X 10(12)1(-1) in 80% of the cases, the three discrimination functions were 'positive' in 91%, 94% and 92% respectively. MCV/RBC and (MCV)2 X MCH separated successfully the subjects with microcytic anaemia (heterozygous thalassaemia and iron deficiency) from normal controls. On the other hand the DF turned out to be more satisfactory than RBC in discriminating heterozygous thalassaemia from iron deficiency anaemia. Thus in population screening for thalassaemia either MCV/RBC or (MCV)2 X MCH ought to be used first and then the DF.
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PMID:Screening for thalassaemia and/or iron deficiency: evaluation of some discrimination functions. 670 45

Patients with thalassemia as well as those with iron deficiency typically have red cell microcytosis and hypochromia. In view of the large number of children with microcytic anaemia or an isolated microcytosis seen at the Red Cross War Memorial Children's Hospital, the frequency with which a low red cell mean corpuscular volume (MCV) was associated with the presence of thalassaemia or with an abnormal haemoglobin was investigated. Of 730 patients with an MCV of 60 fl or less, 46 (6.4%) were found to carry the beta-thalassaemia gene and 20 children (2.7 %) had an abnormal haemoglobin, most commonly haemoglobin E. The prevalence of thalassaemia was greatest among Coloured patients and abnormal haemoglobins were found exclusively in this group of children. The implications of these findings are discussed.
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PMID:Microcytic anaemia and haemoglobinopathy in Cape Town children. 711 19

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

An 11-year-old boy was noted to have microcytic anemia, growth retardation, polyclonal hypergammaglobulinemia, and abnormal platelet function. An angiomatous lymphoid hamartoma was removed from the retroperitoneal space. Postoperatively the child exhibited a dramatic growth spurt and complete resolution of the abnormal laboratory measurements. Studies were performed before and after tumor removal to investigate the nature of the associated anemia, growth retardation, and altered hemostasis. There was no evidence of iron deficiency, thalassemia, or an antierythropoietin factor. Prolonged bleeding time and impaired ristocetin-induced platelet aggregation normalized following tumor resection. Serum obtained before surgery inhibited lymphocyte proliferation in mixed lymphocyte culture as well as fibroblast growth in vitro. Detailed study of growth regulatory hormones failed to reveal significant alterations except for significantly reduced somatomedin which normalized after surgery. The factor(s) which inhibit in vitro cellular growth and lower in vivo plasma somatomedin concentration remain unknown.
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PMID:Angiomatous lymphoid hamartoma: inhibitory effects on erythropoiesis, growth, and primary hemostasis. 726 91

The Belgrade (b/b) rat has hereditary hypochromic microcytic anemia as the consequence of intracellular iron deficiency. Studies in the b/b rat have also demonstrated alteration in hematopoiesis at the progenitor cell level. In the present study, investigations were extended to the bone marrow hematopoietic stem cells as determined by measurements of marrow repopulating ability (MRA) and day 8 spleen colony-forming units (CFU-S-8). A reduced number of CFU-S-8 per femur was found, together with a low incidence per 10(5) bone marrow cells and a nondetectable proliferation rate. The proliferation rate did not increase after treating b/b rat bone marrow cells in vitro with a stimulator for CFU-S proliferation, indicating a proliferative block. The treatment of b/b rats with iron enhanced the proliferation rate and partially increased the number of CFU-S-8 in bone marrow. Chronic transfusion of b/b rats with washed RBC from non-anemic animals restored both the number and the proliferative response of bone marrow CFU-S-8. The MRA of b/b rats was reduced, but in proportion to the decrease in the bone marrow cellularity of these animals. MRA (pre-CFU-S) of b/b rats recovered completely after both iron treatment and chronic transfusions, suggesting that changes in the pre-CFU-S pool are secondary rather than directly induced by the genetic defect. These results indicate the importance for stem cell proliferation of normal oxygenation--the arterial oxygen content in b/b rats is six times lower than in (+/+, b/+) rats--which recovered after the iron treatment and was completely restored after chronic transfusions. High-dose iron therapy abrogated the proliferative block of CFU-S-8, but number of CFU-S-8 was not completely recovered in spite of normalized oxygenation, indicating a possible suppressive effect of iron overload on the marrow microenvironment.
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PMID:Hematopoietic stem cells in the hereditarily anemic Belgrade laboratory (b/b) rat. 755 23

Apparently healthy persons (n = 425) as well as 264 patients characterized by an iron concentration in serum < 7.2 mumol/l were examined. A latent iron deficiency was defined as a concentration of ferritin < 20 micrograms/l (males) and < 15 micrograms/l (females), without anaemia; manifest iron deficiency defined by an additional presence of hypochromic microcytic anaemia. Fifty-nine of 425 (= 14%) apparently healthy persons showed a latent iron deficiency. In the remaining 366 we established the following reference intervals for the concentration of transferrin in serum [mumol/l]: 25.2-45.3 (males), 29.1-54.5 (females, < or = 25 years of age) and 25.3-48.6 (females, > 25 years of age). Eight of 59 (= 14%) apparently healthy persons with latent iron deficiency had a transferrin concentration above the reference interval. Sixty-one of 264 (= 23%) patients with an iron concentration < 7.2 mumol/l showed a ferritin concentration < 20 micrograms/l (males) and < 15 micrograms/l (females). Thirty-eight of these 61 patients (= 62%) had a manifest iron deficiency. In 18 of these 38 patients (= 47%) the transferrin concentration was increased. For our 264 patients we determined the diagnostic validity of an increased transferrin concentration for diagnosis of iron deficiency, assuming an iron deficiency if the concentration of ferritin remained below the discrimination values mentioned above: The diagnostic sensitivity was 36%, the diagnostic specificity 97%, the predictive value of the positive test result 79% and the predictive value of the negative test result 83%.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Efficacy of transferrin determination in human sera in the diagnosis of iron deficiency. 816 89


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