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As hemoglobinopatias, distúrbios geneticamente determinados da hemoglobina (Hb) humana, estão presentes com freqüência elevada em várias partes do mundo, sendo que no Brasil as Hb anormais S e C são as mais prevalentes.
Wanessa L. P. Vivas +3 more
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As anormalidades estruturais da hemoglobina estão entre as doenças genéticas mais comumente encontradas nas populações humanas. O Laboratório de Hemoglobinopatias do Departamento de Patologia Clínica da Faculdade de Ciências Médicas da Universidade ...
Elza M. Kimura +6 more
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Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil.
Claudia R. Bonini-Domingos +4 more
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Reaction trajectory revealed by a joint analysis of protein data bank. [PDF]
Structural motions along a reaction pathway hold the secret about how a biological macromolecule functions. If each static structure were considered as a snapshot of the protein molecule in action, a large collection of structures would constitute a ...
Zhong Ren
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NEW REPORT OF KOLN HEMOGLOBIN FROM COUNTRYSIDE/INTERIOR OF SÃO PAULO
Introduction: Hemoglobinopathies are considered a major public health problem in many countries, including Brazil, a fact explained by their frequency, genetic diversity and clinical importance. The unstable hemoglobin group is associated with congenital
JO Rios, LR Pereira, CR Bonini-Domingos
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Abnormal Hemoglobins in Human Populations /
Research on abnormal human hemoglobins (protein in blood that carries oxygen), has taught us about the inheritance, biochemistry, and distribution of these traits.
Livingstone, Frank B.,, Marks, Jonathan,
core
γA gene repeats polymorphism for the analysis of haplotypes of abnormal hemoglobins
Aim of this study was to analyze γ A gene repeat polymorphism for the analysis of haplotypes of hemoglobin (Hb) variants such as Hb S, Hb D-Punjab, Hb O-Arab. Sickle cell cases had mainly Benin and Arab/Indian haplotype.
Nejat Akar +3 more
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Hemoglobin Santa Ana [β88(F4)Leu→Pro (CTG > CCG) HBB: c.266T > C] is an unstable hemoglobin variant characterized by a substitution of the amino acid leucine by proline at the 88th position of the β-globin chain.
Li Du +8 more
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STUDIES ON ABNORMAL HEMOGLOBIN
本邦では1957年ごろより異常血色素の本格的検索がはじめられたが,著者は戦後わが国に残された混血児達により,従来本邦に存在しなかつた異常血色素の遺伝因子が導入される可能性を考え,その実態を明らかにせんとして混血児179名について異常血色素の検索を行ない,また同時に東京,神奈川在住本邦人3000余名についても異常血色素の検索を行なつた.その結果,本邦人3000余名中よりは1例も異常血色素を確認できなかつたが,混血児179名中よりは2例に異常血色素を確認した.この比率は約1.1%である.
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Determination of Beta Thalassemia trait and abnormal Hemoglobin variant frequency
Introduction: Hemoglobinopathies are among the most common hereditary disorders globally, classified into thalassemias and abnormal hemoglobins. Abnormal hemoglobins arise from genetic alterations like point mutations, insertions, or deletions, with Hb S,
Miraç Seher Helvacı +7 more
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