Hemoglobinopathy

Aka: Hemoglobinopathy, Hemoglobin Disorder

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II. Physiology

  1. See Red Blood Cell Physiology
  2. Normal Hemoglobin is composed of 4 Protein-Heme complexes
    1. Two pairs of polypeptides (4 total)
      1. A pair of alpha chains are found in every normal Hemoglobin type
      2. A pair of other identical polypetides depending on Hemoglobin type (Gamma, Beta, Delta)
    2. Central iron-containing heme ring
      1. Attached to each of the 4 polypeptides
    3. Images
      1. hemoglobin.jpg
  3. Six types of normal Hemoglobin
    1. Embryonic
    2. Gower I
    3. Gower II
    4. Portland
    5. Fetal Hemoglobin (HbF): Alpha2-Gamma2
      1. Primary Hemoglobin in fetus
      2. Replaced by Adult Hemoglobin by age 6-12 months
    6. Adult Hemoglobin (HbA): Alpha2-Beta2
    7. Adult Hemoglobin (HbA2): Alpha2-Delta2
  4. Thalassemia related Hemoglobins
    1. Hemoglobin Bart's: Gamma4
      1. Seen in Alpha Thalassemia
    2. Hemoglobin H: Beta4
      1. Seen in Beta Thalassemia

III. Types: Sickle Cell Syndromes

  1. Sickle Cell Disease
    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)
  2. Sickle Cell Related Hemoglobin (Hb S)
    1. Hemoglobin S (Hb S) replaces the normal Hemoglobin A
      1. Deoxygenated Hemoglobin-S assumes a sickle shape deforming Red Blood Cells
      2. Deoxygenated HbS aggregates under low oxygen tension
        1. Molecules polymerize into a gelatinous network
        2. Deforms Red Blood Cells into a sickle shape
      3. Red cells with sickle shape are less deformable
        1. Results in microvascular Occlusion, ischemia and acidosis from sludging within arterioles
        2. Results in Hemolysis due to red cell fragility
    2. Chromosome 11 Mutation: Substitution of Amino AcidValine for Glutamic Acid
      1. Occurs at the 6th position of the Hemoglobin beta-chain
      2. Results in a "sticky" Hemoglobin that forms a rigid chain when deoxygenated
      3. Sickle cell gene is inherited in Autosomal Recessive pattern
        1. Heterozygotes have Sickle Cell Trait and Homozygotes have Sickle Cell Anemia
        2. Sickle Cell Trait is protective against Malaria, resulting in up to 40% trait Prevalence in some African regions

IV. Types: Thalassemia

  1. Alpha Thalassemia (Hemoglobin Bart's: Gamma4)
  2. Beta Thalassemia (Hemoglobin H: Beta4)
    1. Beta Thalassemia minor
    2. Beta Thalassemia Major

V. Types: Unstable Hemoglobins

  1. Congenital Heinz body Hemolytic Anemia
  2. Methemoglobinemia

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Related Studies

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, ｲｼﾞｮｳﾍﾓｸﾞﾛﾋﾞﾝｼｮｳ, ｲｼﾞｮｳﾍﾓｸﾞﾛﾋﾞﾝｼｮｳNOS, ｾﾝﾃﾝｾｲｲｼﾞｮｳﾍﾓｸﾞﾛﾋﾞﾝｼｮｳ
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
Derived from the NIH UMLS (Unified Medical Language System)

Related Topics in Hemoglobinopathies

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