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Revista Cubana de Hematología, Inmunología y Hemoterapia
versión impresa ISSN 0864-0289versión On-line ISSN 1561-2996
Resumen
PEREZ, Susana M. et al. Compound heterozygosity of Hb QIndia (a64 (E13) ASP®HIS) and -a3,7 thalassemia. First report from Argentina. Rev Cubana Hematol Inmunol Hemoter [online]. 2010, vol.26, n.3, pp.236-240. ISSN 0864-0289.
Hemoglobine (Hb) Q-India is an innocuous aglobin variant: a64 Asp ® His. DNA sequencing studies have shown that the Hb Q India mutation is GAC ® CAC in codon 64 of the a1 gene. Hb Q-India is a well-known hemoglobin variant in South-East Asia but only isolated case reports exist in literature to describe this rare entity in the rest of de world. The variant has been found with various forms of aand ß thalassemia. This hemoglobin has the same electrophoretic mobility as Hb S. We report, for the first time, the identification of Hb Q-India in an Argentinian woman (her parents came from Gibraltar), referred to our laboratory bearing a mild microcytic hypocromic anemia; a co-inherited a+ thalassemia (-a3.7 th) was also found.
Palabras clave : Abnormal hemoglobin (Hb); microcytic hypocromic anemia; Hb Q India.