1.
Indian J Hum Genet
; 2013 Oct-Dec ;19 (4): 479-482
Artigo
em Inglês
| IMSEAR
| ID: sea-156619
RESUMO
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.
Assuntos
Adulto , Cromatografia Líquida de Alta Pressão , Hemoglobinopatias/classificação , Hemoglobinopatias/genética , Hemoglobinas Anormais/classificação , Hemoglobinas Anormais/genética , Heterozigoto , Humanos , Masculino , Índia
2.
Indian J Pathol Microbiol
; 2011 Jul-Sept 54(3): 648-649
Artigo
em Inglês
| IMSEAR
| ID: sea-142076