Heterocigosis de la Hb QIndia (α64 (E13) ASP→HIS) y -α3,7 thalassemia. Primer informe desde Argentina

Translated title of the contribution: Compound heterozygosity of Hb QIndia (α64 (E13) ASP→HIS) and -α3,7 thalassemia. First report from Argentina

Susana M. Pérez, Nélida I. Noguera, Irma Del Luján Acosta, Karina Lucrecia Calvo, Irma Margarita Bragós, Virginia Rescia, Ángela Milani

Research output: Contribution to journalArticlepeer-review

Abstract

Hemoglobine (Hb) Q-India is an innocuous aglobin variant: α64 Asp → His. DNA sequencing studies have shown that the Hb Q India mutation is GAC → CAC in codon 64 of the α1 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 αand β 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 α+ thalassemia (-α3.7 th) was also found.

Translated title of the contributionCompound heterozygosity of Hb QIndia (α64 (E13) ASP→HIS) and -α3,7 thalassemia. First report from Argentina
Original languageSpanish
Pages (from-to)236-240
Number of pages5
JournalRevista Cubana de Hematologia, Inmunologia y Hemoterapia
Volume26
Issue number3
Publication statusPublished - Sep 2010

Keywords

  • Abnormal hemoglobin (Hb)
  • Hb Q India
  • Microcytic hypocromic anemia

ASJC Scopus subject areas

  • Hematology
  • Immunology
  • Immunology and Allergy

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