1.
Indian J Hum Genet
;
2013 Oct-Dec ;19 (4): 479-482
Artículo
en Inglés
| IMSEAR
| ID: sea-156619
RESUMEN
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.
Asunto(s)
Adulto , Cromatografía Líquida de Alta Presión , Hemoglobinopatías/clasificación , Hemoglobinopatías/genética , Hemoglobinas Anormales/clasificación , Hemoglobinas Anormales/genética , Heterocigoto , Humanos , Masculino , India
2.
Acta bioquím. clín. latinoam
;
19(supl.6): 1-96, 1985. ilus
Artículo
en Español
| LILACS
| ID: lil-122928