Your browser doesn't support javascript.
loading
Montrer: 20 | 50 | 100
Résultats 1 - 2 de 2
Filtre
1.
Indian J Hum Genet ; 2013 Oct-Dec ;19 (4): 479-482
Article Dans Anglais | IMSEAR | ID: sea-156619

Résumé

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.


Sujets)
Adulte , Chromatographie en phase liquide à haute performance , Hémoglobinopathies/classification , Hémoglobinopathies/génétique , Hémoglobines anormales/classification , Hémoglobines anormales/génétique , Hétérozygote , Humains , Mâle , Inde
SÉLECTION CITATIONS
Détails de la recherche