About: Nestabilní hemoglobinové varianty u dětí v české a slovenské populaci.     Goto   Sponge   NotDistinct   Permalink

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Description
  • In the Czech and Slovak population, 8 types of unstable hemoglobins have been described in 9 children. Two mutations were identified for the first time (Hb Haná, Hb Hradec Králové), mutations in the other children had been described before (Hb Köln, Hb E, Hb Nottingham, Hb Sydney, Hb Saint Louis, Hb Santa Ana). Clinical and laboratory findings were variable, and intensity of hemolysis was dependent on the stability of globin chains or other modifying genetic factors. The most severe hemolytic anemia was present in a child with Hb Nottingham and in a female patient with HbE, however, in this patient the severity of anemia was influenced by two other globin gene defects. Manifestations of hemolysis in the other children were of mild degree with typical deterioration after oxidative drugs and infections. (en)
  • Nestabilní hemoglobinopatie jsou způsobené mutacemi globinových genů.
  • Nestabilní hemoglobinopatie jsou způsobené mutacemi globinových genů. (cs)
Title
  • Nestabilní hemoglobinové varianty u dětí v české a slovenské populaci.
  • Unstable Hemoglobin Variants in Children of the Czech and Slovak Population (en)
  • Nestabilní hemoglobinové varianty u dětí v české a slovenské populaci. (cs)
skos:prefLabel
  • Nestabilní hemoglobinové varianty u dětí v české a slovenské populaci.
  • Unstable Hemoglobin Variants in Children of the Czech and Slovak Population (en)
  • Nestabilní hemoglobinové varianty u dětí v české a slovenské populaci. (cs)
skos:notation
  • RIV/61989592:15110/07:00007139!RIV09-MSM-15110___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • S, Z(MSM6198959205)
http://linked.open...iv/cisloPeriodika
  • 9
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 436921
http://linked.open...ai/riv/idVysledku
  • RIV/61989592:15110/07:00007139
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • hemolysis; hemoglobinopathy; unstable hemoglobin; Heinz bodies; tests of hemoglobin stability; DNA sequencing; Hb-Köln; Hb-St. Louis; Hb-Nottingham; Hb-E; Hb-Hradec Králové; Hb-Haná; Hb-Sydney; Hb-Santa Ana (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • CZ - Česká republika
http://linked.open...ontrolniKodProRIV
  • [A320A1BC5397]
http://linked.open...i/riv/nazevZdroje
  • Česko-slovenská pediatrie
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 62
http://linked.open...iv/tvurceVysledku
  • Indrák, Karel
  • Pospíšilová, Dagmar
  • Čermák, L.
  • Divoký, Vladimír
  • Chrobák, L.
http://linked.open...n/vavai/riv/zamer
issn
  • 0069-2328
number of pages
http://localhost/t...ganizacniJednotka
  • 15110
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