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Homozygous Hb Stanleyville‐II [alpha2 78(EF7) Asn>Lys; HBA2:c.237C>A, not C>G] associated with genotype −α 3.7 /−α 3.7 in two Brazilian families
Author(s) -
PIMENTEL F. S.,
SILVA M. R.,
FERRAZ M. H. C.,
CARVALHO N. O.,
PERONE C.,
MÉNDEZ del CASTILLO D.,
JANUARIO J. N.,
VIANA M. B.
Publication year - 2011
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2011.01321.x
Subject(s) - microcytosis , isoelectric focusing , hemoglobin variants , thalassemia , hemoglobin , genotype , hemoglobin a2 , microbiology and biotechnology , hemoglobinopathy , genetics , polymorphism (computer science) , hemoglobin c , restriction fragment length polymorphism , biology , gene , chemistry , medicine , hemolytic anemia , anemia , iron deficiency , biochemistry , immunology , enzyme
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 homozygous hemoglobin with S mobility was detected in two unrelated babies in Brazil. Methods: Isoelectric focusing and high‐performance liquid chromatography assays, gene sequencing, and restriction fragment length polymorphism with AfeI were used to characterize the hemoglobin. Results: Hb Stanleyville‐II and −α 3.7 /−α 3.7 type I deletion in the α‐globin gene was diagnosed. Parents were heterozygous for both Hb Stanleyville‐II and α‐thalassemia. Hypochromia and microcytosis were probably due to the homozygous α‐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.