II. Types: Sickle Cell Syndromes

  1. Sickle Cell Trait
  2. Sickle Cell Anemia
  3. Combination disorders
    1. Sickle B Thalassemia
    2. Sickle C Disease (SC)
    3. Sickle D Disease (SD)

III. Types: Unstable Hemoglobins

  1. Congenital Heinz body Hemolytic Anemia
  2. Methemoglobinemia

IV. Types: Thalassemia

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Ontology: Hemoglobinopathies (C0019045)

Definition (MSHCZE) Nemoc, jejíž podstatou je tvorba vadného krevního barviva (hemoglobinu) v důsledku mutace v některém z hemoglobinových řetězců. Vadný hemoglobin hůře přenáší kyslík nebo mění vlastnosti červených krvinek. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.
Definition (MSH) A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Definition (CSP) group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Concepts Disease or Syndrome (T047)
MSH D006453
ICD10 D58.2
SnomedCT 267556002, 154794008, 80141007
LNC LP31618-9, MTHU029621, LA16207-5
English Hemoglobinopathies, hemoglobinopathies, Hemoglobinopathy NOS, hemoglobinopathy, hemoglobinopathy (diagnosis), Haemoglobinopathies congenital, Haemoglobinopathies, Haemoglobinopathy NOS, Hemoglobinopathies [Disease/Finding], haemoglobin disease, haemoglobinopathies, hemoglobin disease, hemoglobin disorder, diseases hemoglobin, disorders hemoglobin, haemoglobinopathy, hemoglobin disorders, Hemoglobin disorders, Hemoglobin disease, Hemoglobinopathy, Hemoglobin disorder, Haemoglobinopathy, Globin abnormality, Haemoglobin disease, Haemoglobin disorder, Hemoglobinopathy (disorder), Globin abnormality, NOS, Hemoglobin disease, NOS, Hemoglobin disorder, NOS, Hemoglobinopathy, NOS, Haemoglobin disease, NOS, Haemoglobin disorder, NOS, Haemoglobinopathy, NOS, Hemoglobinopathies / Iron Metabolism, Hemoglobinopathies congenital
Italian Emoglobinopatia, Emoglobinopatie congenite, Emoglobinopatia NAS, Emoglobinopatie
Dutch hemoglobinopathie NAO, hemoglobinopathie, hemoglobinopathieën, congenitaal, hemoglobinopathieën, Hemoglobinopathie, Hemoglobinopathieën
French Hémoglobinopathie SAI, Hémoglobinopathie, Hémoglobinopathies congénitales, Hémoglobinopathies, Maladies de l'hémoglobine
German Haemoglobinopathie NNB, Haemoglobinopathien, Haemoglobinopathie, Kongenitale Haemoglobinopathien, Hämoglobinopathien
Portuguese Hemoglobinopatia NE, Hemoglobinopatias congénitas, Hemoglobinopatia, Hemoglobinopatias
Spanish Hemoglobinopatía NEOM, alteración de la hemoglobina, hemoglobinopatía (trastorno), hemoglobinopatía, trastorno de la hemoglobina, Hemoglobinopatías congénitas, Hemoglobinopatía, Hemoglobinopatías
Japanese 異常ヘモグロビン症NOS, 先天性異常ヘモグロビン症, 異常ヘモグロビン症, イジョウヘモグロビンショウ, イジョウヘモグロビンショウNOS, センテンセイイジョウヘモグロビンショウ
Swedish Hemoglobinopatier
Czech hemoglobinopatie, Hemoglobinopatie, Vrozené hemoglobinopatie, Hemoglobinopatie NOS, Patologie hemoglobinu
Finnish Hemoglobinopatiat
Russian GEMOGLOBINOPATII, ГЕМОГЛОБИНОПАТИИ
Croatian HEMOGLOBINOPATIJE
Polish Hemoglobinopatie
Hungarian Haemoglobinopathiák, veleszületett, Haemoglobinopathia, Haemoglobinopathiák, Haemoglobinopathia k.m.n., Hemoglobinopatia
Norwegian Hemoglobinopati, Hemoglobinopatier