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

Porotic hyperostosis was observed in 34 percent of 539 crania excavated from sites in Arizona and New Mexico. Common causes of this cranial pathology in the Old World (thalassemia, sickel cell anemia, and malargia) do not explain its occurrence in the American Southwest, as malaria and hemoglobinopathies are not known to have existed in the New World prior to European contact. Iron deficiency anemia which may also be assoicated with porotic hyperostosis occurs on a mass level only with hookworm infestation or nutritionally-related iron deficiency. Since hookworm infestation is rare in the American southwest and has not been reported in prehistoric southwestern American Indians, the hypothesis of nutritional anemia was examined. In canyon bottom sites where the diet was heavily dependent on maize, which is low in iron and also contains an inhibitor of iron absorption, significantly more crania had porotic hyperostosis than in sage plain sites, where the diet included ample animal protein rich in easily absorbable iron (p less than .001). Furthermore, canyon bottom children, who were more susceptible to iron deficiency anemia, had a higher incidence of porotic hyperostosis lesions than adults (p less than .0001).
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PMID:The paleoepidemiology of porotic hyperostosis in the American Southwest: Radiological and ecological considerations. 110 84

This analysis reviews published studies of cord haemoglobin values in developing countries and compares findings for populations that are either exposed or not exposed to malaria. The review indicates: first, that fetal anaemia is common in women with chronic moderate-to-severe iron deficiency anaemia; second, that a severe degree of fetal anaemia is reported in several areas where malaria in pregnancy is common. Different levels of fetal anaemia or polycythaemia arise in relation to the duration and severity of maternal anaemia during pregnancy, but in malarious areas the fetal anaemia appears to be out of proportion to the level of maternal anaemia. Haemoglobinopathies are likely to play a contributory role in causing fetal anaemia. The concept is advanced that malaria may contribute to fetal anaemia as a result of immune haemolysis of sensitized red cells. Sensitization could be from malaria antibodies and antigens which cross the placenta. Further evidence is required to prove this hypothesis. The importance of fetal anaemia is that it is likely to relate to the pattern and risk of developing anaemia in infancy.
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PMID:Fetal anaemia in malarious areas: its causes and significance. 128 47

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

Hb A2 was determined in 477 subjects: 77 were affected by iron deficiency anemia, 172 were carriers of beta-thalassemia trait and 228 were normal controls. Hb A2 was determined by both DE-52 microchromatography and high-performance liquid chromatography (HPLC). The analysis of the data by linear regression demonstrated that the methods furnish overlapping results. Our findings show that HPLC is a rapid and easily reproduced method which allows a quantitative and qualitative discrimination of the various Hb fractions, making it a valid tool in screening programs for hemoglobinopathies.
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PMID:Comparative approach to the evaluation of hemoglobin A2 by two different methods: high-performance liquid chromatography and DE-52 microchromatography. 211 13

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

Enlarged spleen, fever, increased susceptibility to infections, and thrombocytosis, are manifestations of iron deficiency which are relatively specific of pediatric patients. Iron deficiency anemia is part of everyday pediatrics. Patients are referred to the hematologist in the following situations: 1) Therapy is ineffective for one of the following reasons: the hypochromic anemia is not caused by iron deficiency (hemoglobinopathies); iron is less efficiently used because of transferrin deficiency or infectious, inflammatory or cancerous disease; iron therapy is inadequate either because of insufficient dosage or of suboptimal duration. 2) A relapse occurs in spite of adequate therapy. Before investigating the digestive tract, abnormal hemostasis. Osler-Weber-Rendu syndrome and pulmonary hemosiderosis should be considered. 3) Iron deficiency anemia is less common in adolescents. This condition, known as chlorosis, results mainly from increased needs, unbalanced diet, and onset of menses. In some cases no explanation is found but iron therapy leads to recovery. 4) Difficult problems arise in patients with complex anemias: iron deficiency with folic acid or vitamin B12 deficiency; hyposideremia complicating one of the hemoglobinopathies.
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PMID:[Iron-deficiency anemia. Hematologist's viewpoint]. 629 49

Hemoglobin A2 levels in members of an African American family with -88 C-->T beta(+)-thalassemia were measured, and two patients in whom iron deficiency anemia developed were evaluated during treatment. Iron deficiency may diminish the level of HbA2 in healthy control subjects and in patients with heterozygous beta-thalassemia; in addition, it may reduce the amount of variant hemoglobin in certain hemoglobinopathies. Although iron deficiency appeared to be associated with a reduction in HbA2 quantity in the patient with heterozygous beta-thalassemia, the level of HbA2 did not fall below the range characteristic of beta-thalassemia. It had been proposed that mutations in the beta-globin gene promoter may be associated with higher-than-expected levels of HbA2. However, this "mild" beta-globin gene promoter mutation did not seem to result in HbA2 concentrations higher than anticipated in the heterozygous beta-thalassemias.
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PMID:Case report: effects of iron deficiency and the -88 C-->T mutation on HbA2 levels in beta-thalassemia. 848 91

To evaluate the degree of tissue hypoxia in patients with hemoglobinopathy H disease, whole blood oxygen affinity was estimated and analyzed in 33 patients. Twenty patients with iron deficiency anemia, matched for degree of anemia, served as controls. The results were as follows: Whole blood oxygen equilibrium curves of patients with HbH disease are biphasic because of a combination of the rectangular hyperbolic curve of HbH and the normal sigmoid curve of HbA and are shifted toward the left (P50 3.66 +/- 0.33 kPa). Patients with iron deficiency anemia have right-shifted oxygen equilibrium curves (P50 4.02 +/- 0.13 kPa) compared with normal. Oxygen release to the tissues in HbH disease is decreased (1.4 +/- 0.3 mmol/L) as compared with iron-deficient patients (1.6 +/- 0.2 mmol/L) with a similar degree of anemia. Red cell indices vary between the two groups. In patients with HbH disease the mean corpuscular hemoglobin concentration was 268 +/- 17 g/L as compared with 294 +/- 18 g/L in iron deficiency anemia. These findings indicate that whole blood oxygen affinity is a reliable index of tissue oxygenation in patients with hemoglobinopathy H.
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PMID:Tissue oxygenation in patients with hemoglobinopathy H. 921 33

The frequency and etiology of anemia were investigated in 2,913 children between six and 16 years of age in Sanliurfa, in the southeast region of Turkey. Anemia was found in 142 (7.8%) children in the 6-11 years of age group, and in 16 (1.5%) in the 12-16 years of age group; in total, in 158 (5.4%) children. Causes were iron deficiency in 93 (58.9%) children, beta-thalassemia heterozygosity in 10 (6.3%) children, chronic disease that causes anemia of inflammation in 30 (19.0%) children, and intestinal parasitic infections in 17 (10.8%) children. In eight (5.1%) children, the cause of anemia could not be determined. The study's results showed that iron deficiency anemia and chronic and parasitic disease are important problems in schoolchildren of Sanliurfa, while beta-thalassemia and hemoglobinopathies have less importance.
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PMID:The frequency and etiology of anemia among children 6-16 years of age in the southeast region of Turkey. 1093 71

The American Academy of Pediatrics (AAP) recommends screening for anemia between the ages of 9 to 12 months with additional screening between the ages of 1 and 5 years for patients at risk. The screening may be universal or selective depending on the prevalence of iron deficiency anemia in the population. Improved infant rearing practices-including wider availability, acceptance, and use of iron-fortified formulas; iron fortification of foods; and increased awareness of the importance of dietary iron supplementation especially early in life-have lead to significant decline in the incidence of anemia in the first year of life. However, incidence of iron deficiency and ensuing anemia in children between 1 and 2 years continues to be significant and an important issue. Although iron deficiency may develop soon after cessation of or inadequate iron intake, anemia secondary to iron deficiency develops gradually over a period of several weeks to months. For children who have received/are receiving iron-fortified infant formulas and foods, hemoglobin screening at 9 to 12 months of age is inappropriate as there may not have been sufficient time to develop anemia, despite the rapid growth rate at this age. Widespread implementation of hemoglobin electrophoresis included in the neonatal metabolic screening programs in many states in the United States now has resulted in earlier diagnosis of hemoglobinopathies. Screening children at 9 to 12 months of age for hemoglobinopathies is somewhat redundant now. Screening for anemia before or around 1 year of age should continue to be important for communities and children at risk. Universal screening of toddlers at a later time allows sufficient time for nutritional anemia to become evident after the child has been weaned off iron-fortified formulas, for the influence of toddler dietary fads to manifest, and for evaluation of tolerance of cow's milk protein. This may be addressed via 2 approaches. The first involves postponing the currently recommended screening or an additional screening for anemia between 15 to 18 months of age. Determination of hemoglobin (or hematocrit) is not the optimal way to identify children at risk from effects of iron deficiency as it fails to identify patients who are iron-deficient but are not anemic. Long-term psychomotor, behavioral, and developmental effects secondary to iron deficiency anemia are known but sufficient data are lacking regarding the role of iron deficiency without anemia. Development and evaluation of sensitive, specific, and cost-effective screening tools to identify children at risk for iron deficiency is important. Until such methods are instituted, the AAP should emphasize and recommend universal screening for anemia during the second year of life.
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PMID:Screening for anemia in children: AAP recommendations--a critique. 1153 74


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