Background: Hemoglobin D Iran is frequently misdiagnosed as Hb E or
Hb D Punjab if only one method of screening is used.
The objective of our study was to highlight the
importance of using two different screening techniques in diagnosis of a
hemoglobin variant, Hb D Iran in our case. Hematological parameters of
heterozygous Hb D Iran and compound heterozygous β/Hb D Iran were also compared.
Methods: A descriptive study was carried out on results of 52,379
subjects which were part of thalassemia extended family cascade screening from
36 districts of Punjab from October 2019-March 2021. Cases of Hb D Punjab and
Hb E were run on both CE-HPLC (cation exchange-high performance liquid
chromatography) and CZE (capillary zone electrophoresis). Resulting Hb D Iran
cases were confirmed by ARMS-PCR (Amplification refractory mutation
system-polymerase chain reaction).
Results: Forty cases of Hb D Iran were detected out of 160
initially suspected Hb D Punjab cases and 126 Hb E cases. Diagnosis was
confirmed by molecular analysis. Statistical
significance was found between RBC count, MCV, MCH, Hb F and diagnosis of
“heterozygous Hb D Iran” and “compound heterozygous for β/ Hb D Iran”.
Conclusion: Hb D Iran can be easily
missed and misdiagnosed as Hb E or Hb D Punjab, if two screening methods are not
used. This maybe a reason why Hb D Iran remains unreported in our region. CBC
and HPLC indices can also be suggestive if a case is of heterozygous D Iran or
compound heterozygous β/Hb D Iran.
Keywords: Hb D Iran, Hb E, Hb D Punjab, Cation exchange High
performance liquid chromatography, Capillary zone electrophoresis