Results: 12

Hemoglobina Denver, una causa de desaturación en oximetría de pulso. Reporte de caso en un paciente pediátrico

Arch. argent. pediatr; 121 (5), 2023
Las hemoglobinopatías son trastornos genéticos que afectan a la molécula de hemoglobina (Hb). Las mutaciones en las cadenas a o b que alteran el tetrámero de Hb pueden modificar la capacidad de la molécula para unirse al oxígeno. Las hemoglobinopatías con baja afinidad al oxígeno pueden presentar...

Técnicas convencionales aplicadas al diagnóstico de las hemoglobinopatías

Las hemoglobinopatías son trastornos hereditarios debidos a una gran variedad de defectos que afectan a los genes de globina. El diagnóstico de las hemoglobinopatías resulta de una combinación de estudios clínicos, pruebas de laboratorio y estudio familiar. Las herramientas básicas incluyen hemogra...

HbA1c levels in individuals heterozygous for hemoglobin variants

Summary Objective: To evaluate the levels of glycated hemoglobin (HbA1c) in patients heterozygous for hemoglobin variants and compare the results of this test with those of a control group. Method: This was an experimental study based on the comparison of HbA1c tests in two different populations, with ...

Hemoglobinas anormais em sangue de cordão umbilical

Hemoglobin pathologies are heterogeneous groups of recessively inherited disorders, which include thalassemias and falciform-related diseases. A falciform-related Illness is a generic term for the family of hemoglobin pathologies characterized by the presence of hemoglobin S (Hb S). Brazil is a country w...

Hemoglobin Kansas found by electrophoretic diagnosis in Brazil

Some hemoglobin variants with abnormal oxygen affinity have been reported so far from various regions of the world. They can be classified by their oxygen affinity and 15 variants with low oxygen affinity have been reported. A number of hemoglobin mutants which show an abnormal affinity for oxygen have b...

Hemoglobina Köln diagnosticada em programa de triagem neonatal em Säo José do Rio Preto, SP
Köln Hemoglobin found in Neonatal Screening Program in Säo José do Rio Preto, Säo Paulo, Brazil

Alteraçöes genéticas em que a mutaçäo de aminoácidos nas globinas afeta a estrutura da molécula tornando-a instável säo classificadas como hemoglobinas instáveis. Devido à grande diversidade dos pontos de mutaçöes por substituiçöes e deleçöes de aminoácidos, as formas de instabilizaçä...

Polymorphic variation of hemoglobins in buffaloes (Bubalus bubalis)

No presente trabalho foi estudado o polimorfismo bioquímico das hemoglobinas de 96 búfalos indianos de diferentes cruzamentos envolvendo as raças Murrah, Jafarabadi e Mediterrâneo, criados na Fazenda Experimental Lageado - UNESP - Botucatu, Estado de Säo Paulo. As variantes de hemoglobinas foram ide...

Hemoglobina O arabia y hemoglobina Hofu: Reporte de tres familias en el Perú
Hemoglobin Arabic O and Hofu. Report of three families in Perú

Rev. méd. hered; 6 (1), 1995
We report the finding of two abnormal hemoglobins in three Peruvian families: hemoglobin O Arab and Hemoglobin Hofu. In the first case the patient was found to be double heterozygous for hemoglobin O Arab/ß thalassaemia and presents a moderate chronic hemolytic anemia. In the second family the propositu...