1.
Indian J Hum Genet
;
2013 Oct-Dec ;19 (4): 479-482
Article
in English
| IMSEAR
| ID: sea-156619
ABSTRACT
Cation exchange high performance liquid chromatography (CE HPLC) provides an excellent tool for accurate and reliable diagnosis of various hemoglobin (Hb) disorders. HbQ India is a rare alpha chain variant that usually presents in the heterozygous state. Its presence in double heterozygous state with HbD Punjab is extremely rare. The double heterozygosity for a and b chain variants leads to formation of abnormal heterodimer hybrids, which can lead to diagnostic dilemmas. We report two rare cases of double heterozygous HbQ India/HbD Punjab where the hybrid Hb was seen to elute at retention time similar to HbC on CE HPLC. The first case had unconjugated hyperbilirubinemia at presentation; while, the second case was asymptomatic.
Subject(s)
Adult , Chromatography, High Pressure Liquid , Hemoglobinopathies/classification , Hemoglobinopathies/genetics , Hemoglobins, Abnormal/classification , Hemoglobins, Abnormal/genetics , Heterozygote , Humans , Male , India
2.
Indian J Pathol Microbiol
;
2011 Jul-Sept 54(3): 648-649
Article
in English
| IMSEAR
| ID: sea-142076