title: [Homozygous hemoglobin constant spring in Guangxi province].
abstract: OBJECTIVE
  To analyze the relationship between genotype and phenotype of homozygous hemoglobin Constant Spring (Hb CS) in Guangxi province, and to explore the reasons of missed diagnosis and the methods for screening and diagnosing.
  
  
  METHODS
  Screening Hb CS by acetate fibrous membrane electrophoresis with benzidine staining. Gene mutation of homozygous Hb CS by polymerase chain reaction (PCR) and DNA sequencing.
  
  
  RESULTS
  Out of the 9 patients, 4 had no clinical symptoms, 2 showed mild anemia and splenomegaly, 3 were jaundice. Hemoglobin levels were normal or mild anemia. MCVs were normal or reduced. Peripheral blood smear of all the patients displayed hypochromia, anisocytosis, poikilocytosis and target cells. The quantities of HbA(2) + Hb CS were 4.3% - 6.72%, while HbA(2) < 2%. Gene analysis confirmed the diagnosis of homozygous Hb CS.
  
  
  CONCLUSIONS
  There was quite different in clinical symptoms, hematological parameters and hemoglobin quantifications for patients with homozygous Hb CS. They might have no clinical and hematological signs and looked like the phenotype of Hb H disease. Homozygous Hb CS was very easy to miss diagnosis. Gene analysis can be helpful.
authors.affiliation: Hemoglobin Laboratory, the First Affiliated Hospital, Guangxi Medical University, Nanning 530021, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Chen
authors.forename: Gui-fang
authors.initials: GF
authors.lastname: Long
authors.forename: Wei-xiong
authors.initials: WX
authors.lastname: Lin
authors.forename: Shu-quan
authors.initials: SQ
authors.lastname: Li
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C035541:Hemoglobin Constant Spring