Please use this identifier to cite or link to this item: https://www.um.edu.mt/library/oar/handle/123456789/28031
Title: The rare α-Thalassemia-1 of Blacks is a ζα-Thalassemia-1 associated with a deletion of all α- and ζ-Globin genes
Authors: Felice, Alex E.
Cleek, M. P.
McKie, Kathleen Mood
McKie, Virgil C.
Huisman, Titus Hendrik Jan
Keywords: Hemoglobinopathy
Thalassemia in children
Issue Date: 1984
Publisher: The American Society of Hematology
Citation: Felice, A. E., Cleek, M. P., McKie, K., McKie, V., & Huisman, T. H. J. (1984). The rare α-Thalassemia-1 of Blacks is a ζα-Thalassemia-1 associated with a deletion of all α- and ζ-Globin genes. Blood, 63(5), 1253-1257.
Abstract: Restriction endonuclease mapping with α and ζ-globin gene probes showed differences between the α-thalassemia-1 (α-thal-1) condition in 2 patients with HbH disease. One patient had the rare black type of α-thal-1 together with α-thal-2 and HbS heterozygosities. The second patient was a Laotian child with HbE, Hb Constant Spring (α-thal-2), and α-thal-1 heterozygosities. The diagnoses were based on clinical, hematologic, and biochemical data. Whereas DNA fragments hybridizing to a ζ-probe were obtained from the Laotian type of α-thal-1, neither α- nor ζ-gene fragments could be identified deriving from the black type of α-thal-1. Therefore, the black type of α-thal-1 is associated with a deletion of the entire ζ2-ψζ-ψα-α2-α1 gene complex and can be considered a ζα-thal-1. It is likely that homozygosity for such a condition will lead to embryonic wastage, explaining the absence of hydrops fetalis in blacks.
URI: https://www.um.edu.mt/library/oar//handle/123456789/28031
Appears in Collections:Scholarly Works - FacM&SPB

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