Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases.
Indian J Hum Genet
;
2013 Oct-Dec ;19 (4): 479-482
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Humanos
/
Masculino
/
Hemoglobinas Anormales
/
Cromatografía Líquida de Alta Presión
/
Adulto
/
Hemoglobinopatías
/
Heterocigoto
/
India
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Indian J Hum Genet
Año:
2013
Tipo del documento:
Artículo
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