Homozygous Hb Stanleyville-II [alpha2 78(EF7) Asn>Lys; HBA2:c.237C>A, not C>G] associated with genotype )a 3.7 /)a 3.7 in two Brazilian families F. S. PIMENTEL*, M. R. SILVA* ,† , M. H. C. FERRAZ*, N. O. CARVALHO*, C. PERONE*, D. ME ´ NDEZ DEL CASTILLO*, J. N. JANUARIO* ,‡ , M. B. VIANA* ,† INTRODUCTION At present, the Globin Gene Server (http://globin.bx. psu.edu/hbvar/menu.html) registers 1112 structural hemoglobin variants, most of them caused by single DNA nucleotide substitutions resulting in amino acids changes in a globin chain. Hemoglobin S (HbS) is the commonest pathologic hemoglobin in the Brazilian population; the incidence of sickle-cell disease and sickle-cell trait in Minas Gerais, southeastern state in *Nu ´ cleo de Ac ¸o ˜ es e Pesquisa em Apoio Diagno ´ stico (Nupad), Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil † Departamento de Pediatria da UFMG, Belo Horizonte, Brazil ‡Departamento de Clı´nica Me ´dica da UFMG, Belo Horizonte, Brazil Correspondence: Marcos B. Viana, MD, PhD, Departamento de Pediatria da UFMG, Av. Alfredo Balena, 190 – Sala 267, Belo Horizonte 30130-100, Brazil. Tel.: 55 31 34099772; Fax: 55 31 34099770; E-mail: vianamb@gmail.com doi:10.1111/j.1751-553X.2011.01321.x Received 15 January 2011; accepted for publication 7 March 2011 Keywords Hemoglobin Stanleyville-II, alpha-thalassemia, gene sequencing, AfeI restriction enzyme, newborn screening SUMMARY Introduction: Several hemoglobin variants have electrophoretic behavior similar to hemoglobin S, which may lead to false diagnosis for sickle-cell disorders in newborn screening programs. A homozy- gous hemoglobin with S mobility was detected in two unrelated babies in Brazil. Methods: Isoelectric focusing and high-performance liquid chroma- tography assays, gene sequencing, and restriction fragment length polymorphism with AfeI were used to characterize the hemoglobin. Results: Hb Stanleyville-II and )a 3.7 /)a 3.7 type I deletion in the a-globin gene was diagnosed. Parents were heterozygous for both Hb Stanleyville-II and a-thalassemia. Hypochromia and microcytosis were probably due to the homozygous a-thalassemia. Conclusion: Stanleyville-II gene mutation is HBA2:c.237C>A, or C>G, and this information on the Globin Gene Server should be updated; AfeI test is a fast and accurate method to detect it; NBS programs should consider the possibility of Hb Stanleyville-II whenever IEF shows one band in the HbS position, and another one between S and C. SHORT REPORT INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY 566 Ó 2011 Blackwell Publishing Ltd, Int. Jnl. Lab. Hem. 2011, 33, 566–569 International Journal of Laboratory Hematology The Official journal of the International Society for Laboratory Hematology