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.
| Autor: | Pimentel FS; Núcleo de Ações e Pesquisa em Apoio Diagnóstico (Nupad), Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil., Silva MR, Ferraz MH, Carvalho NO, Perone C, del Castillo DM, Januario JN, Viana MB |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | International journal of laboratory hematology [Int J Lab Hematol] 2011 Dec; Vol. 33 (6), pp. 566-9. Date of Electronic Publication: 2011 Apr 07. |
| DOI: | 10.1111/j.1751-553X.2011.01321.x |
| Abstrakt: | 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. (© 2011 Blackwell Publishing Ltd.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|