title: Utility of family studies in diagnosing abnormal hemoglobins/thalassemic states.
abstract: OBJECTIVE
  To resolve all indeterminate cases on HPLC screening with the help of family studies and to further confirm the results by genetic analysis.
  
  
  METHODS
  In our 11 years experience with HPLC at Sir Ganga Ram Hospital, we solved many cases with the help of family studies on parental blood samples in which patient could have possibly been homozygous vs compound heterozygous. Genetic analysis was done on index case as well as on parental samples with ARMS-PCR technique to confirm the results.
  
  
  RESULTS
  In 100% of cases, we noted that the diagnosis obtained by family studies was commensurate with that obtained by DNA analysis.
  
  
  CONCLUSIONS
  In centers, which do not have the facility for genetic analysis, family studies by HPLC can be equally useful.
authors.affiliation: Department of Hematology, Sir Ganga Ram Hospital, New Delhi, India. rangan.aruna@gmail.com
authors.forename: Aruna
authors.initials: A
authors.lastname: Rangan
authors.forename: A
authors.initials: A
authors.lastname: Handoo
authors.forename: S
authors.initials: S
authors.lastname: Sinha
authors.forename: R
authors.initials: R
authors.lastname: Saxena
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
authors.forename: S
authors.initials: S
authors.lastname: Kumar
authors.forename: S K
authors.initials: SK
authors.lastname: Sood
authors.forename: M
authors.initials: M
authors.lastname: Bhargava
mesh_terms: D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal