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
Artigo
em Inglês
| 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:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Humanos
/
Masculino
/
Hemoglobinas Anormais
/
Cromatografia Líquida de Alta Pressão
/
Adulto
/
Hemoglobinopatias
/
Heterozigoto
/
Índia
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2013
Tipo de documento:
Artigo
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