title: Point mutations which should not be overlooked in Hb H disease.
abstract: BACKGROUND
  Hb H disease is an alpha-thalassemia (α-thal) syndrome characterized by chronic hemolytic anemia that occurs when three of total four α-globin genes lost their function due to completely deletions or different kind of mutations.
  
  
  OBJECTIVE
  We here described 66 patients who have been diagnosed for Hb H disease during the last five years in our center. The genotypes involving point mutations present more severe phenotype than deletional forms that make them of primary important to health management.
  
  
  METHODS
  Hb H subjects carry different α-globin genotypes including deletional and non-deletional mutations showing heterogenous clinical manifestations.
  
  
  RESULTS
  The Hb H patients presenting a wide range of phenotype carried different deletional, non-deletional mutations or compound heterozygosity of them.
  
  
  CONCLUSIONS
  We emphasize the importance of some point mutations responsible for more severe form of Hb H disease in Iranian population and the necessity for consideration of prenatal diagnosis (PND) in high-risk couples.
authors.affiliation: a Genetics Research Center , University of Social Welfare & Rehabilitation Sciences , Tehran , Iran.|b Molecular Department, Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
authors.forename: Samaneh
authors.initials: S
authors.lastname: Farashi
authors.affiliation: b Molecular Department, Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
authors.forename: Nooshin
authors.initials: N
authors.lastname: Bayat
authors.affiliation: b Molecular Department, Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
authors.forename: Shadi
authors.initials: S
authors.lastname: Vakili
authors.affiliation: b Molecular Department, Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
authors.forename: Negin
authors.initials: N
authors.lastname: Faramarzi Garous
authors.affiliation: b Molecular Department, Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
authors.forename: Mehri
authors.initials: M
authors.lastname: Ashki
authors.affiliation: b Molecular Department, Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
authors.forename: Hashem
authors.initials: H
authors.lastname: Imanian
authors.affiliation: a Genetics Research Center , University of Social Welfare & Rehabilitation Sciences , Tehran , Iran.|b Molecular Department, Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.affiliation: a Genetics Research Center , University of Social Welfare & Rehabilitation Sciences , Tehran , Iran.|c Iranian Blood Transfusion Organization , High Institute for Transfusion Research Center , Tehran , Iran.
authors.forename: Azita
authors.initials: A
authors.lastname: Azarkeivan
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D006455:Hemoglobins, Abnormal
keywords: Alpha-thalassemia; Hb H disease; microcytic hypochromic anemia; prenatal diagnosis