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1.
Hemoglobin ; 38(4): 252-7, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25023086

RESUMO

Although iron deficiency anemia is very common in India, systematic large studies on the prevalence and hematological consequences of iron deficiency among carriers of ß-thalassemia (ß-thal) and other hemoglobinopathies are lacking. A multi center project was undertaken to screen college/university students and pregnant women for iron deficiency anemia and various hemoglobinopathies. Fifty-six thousand, seven hundred and seventy-two subjects from six states, Maharashtra, Gujarat, Karnataka, West Bengal, Assam and Punjab, were studied. Iron deficiency anemia was evaluated by measuring zinc protoporphyrin (ZPP) and hemoglobin (Hb) levels, while ß-thal and other hemoglobinopathies were detected by measuring the red cell indices and by Hb analysis using high performance liquid chromatography (HPLC). College boys (2.2%), college girls (14.3%) and antenatal women (27.0%) without any hemoglobinopathies had iron deficiency anemia. Among the ß-thal carriers, the prevalence of iron deficiency anemia was 17.3% in college boys, 38.1% in college girls and 55.9% in pregnant women, while in the Hb E [ß26(B8)Glu→Lys; HBB: c.79G>A] carriers, it was 7.3% in college boys, 25.4% in college girls and 78.0% in antenatal women. In individuals with Hb E disease, the prevalence of iron deficiency anemia varied from 31.2-77.3% in the three groups. A significant reduction in Hb levels was seen when iron deficiency anemia was associated with hemoglobinopathies. However, the Hb A2 levels in ß-thal carriers were not greatly reduced in the presence of iron deficiency anemia.


Assuntos
Anemia Ferropriva/complicações , Anemia Ferropriva/epidemiologia , Hemoglobinopatias/complicações , Hemoglobinopatias/epidemiologia , Estudantes , Universidades , Adolescente , Adulto , Anemia Ferropriva/diagnóstico , Feminino , Geografia Médica , Hemoglobinopatias/diagnóstico , Humanos , Índia/epidemiologia , Masculino , Gravidez , Prevalência , Vigilância em Saúde Pública , Adulto Jovem
2.
Hum Genome Var ; 1: 14007, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-27081501

RESUMO

We report a large, non-consanguineous family comprising five generations of individuals residing in Gujarat, India affected with localized Epidermolysis Bullosa Simplex (EBS) Koebner type. We analyzed 14 individuals including 9 affected individuals from this family. Exome sequencing in two cases suggested a novel non-synonymous variation, p.L325H, in the KRT5 gene. The present analysis also reports the first causative mutation of EBS Koebner type from India.

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