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. Conclusion. In centers, which do not have the facility for genetic analysis, family studies by HPLC can be equally useful.