title: Iron deficiency anemia interfering the diagnosis of compound heterozygosity for Hb constant spring and Hb Paksé: The first case report.
abstract: BACKGROUND
  Diagnosis of thalassemia or hemoglobinopathy concomitant with iron deficiency anemia (IDA) is challenging.
  
  
  METHODS
  We report a case of 43-year-old female whose diagnosis of compound heterozygosity for hemoglobin Constant Spring (HbCS) and Hb Paksé became apparent after the treatment of IDA.
  
  
  RESULTS
  Prior to treatment, Hb analysis using isoelectric focusing (IEF) showed HbA 95.6%, HbA22.7%, and HbCS 1.7% compatible with heterozygous HbCS. After 4 months of oral iron therapy resulting in an improved Hb level, her HbCS level was substantially increased to 8.7% on IEF suggesting homozygous HbCS. Subsequent DNA analysis using multiplex amplification refractory mutation system analysis revealed compound heterozygosity for HbCS and Hb Paksé.
  
  
  CONCLUSIONS
  This case demonstrated that IDA can significantly reduce HbCS/Hb Paksé levels and probably mask the diagnosis of homozygous HbCS, homozygous Hb Paksé or the compound heterozygosity for both hemoglobinopathies by hemoblogin analysis. The test should be repeated after resolution of IDA, or molecular testing should be performed to confirm the diagnosis.
authors.affiliation: Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.
authors.forename: Thita
authors.identifier: http://orcid.org/0000-0002-0443-1751
authors.initials: T
authors.lastname: Chiasakul
authors.affiliation: Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.
authors.forename: Noppacharn
authors.initials: N
authors.lastname: Uaprasert
mesh_terms: D000328:Adult; D018798:Anemia, Iron-Deficiency / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D005260:Female; D005296:Ferrous Compounds / Q000627:therapeutic use; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans
chemical_list: D005296:Ferrous Compounds; D006455:Hemoglobins, Abnormal; C099132:hemoglobin Pakse; C020748:ferrous sulfate; C035541:Hemoglobin Constant Spring
keywords: Hb Constant Spring; Hb Paksé; hemoglobin analysis; hemoglobinopathy; iron deficiency anemia