Utility of family studies in diagnosing abnormal hemoglobins/thalassemic states.
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.
Rangan
Aruna
A
Department of Hematology, Sir Ganga Ram Hospital, New Delhi, India. rangan.aruna@gmail.com
Handoo
A
A
Sinha
S
S
Saxena
R
R
Verma
I C
IC
Kumar
S
S
Sood
S K
SK
Bhargava
M
M
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
D006455:Hemoglobins, Abnormal