Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/65220
Title: HB Fannin-Lubbock-I with a single GGC>GAC mutation at β119(GH2)Gly→Asp in a homozygous mexican patient
Author: Ibarra, B.
Aizpuru, E.
Snchez-Lpez, J.Y.
Morales, K.R.
Perea, F.J.
Ruiz-Reyes, G.
Issue Date: 2009
Abstract: We studied a fast-moving, abnormal hemoglobin (Hb) identified as FanninLubbock-I [β119(GH2)Gly→Asp] in a homozygous Mexican girl. To date, homozygosity for the Hb Fannin-Lubbock-I variant has not been reported. Her parents and five other relatives were heterozygotes. The 5′ β-globin haplotype analysis showed that the mutation was associated with haplotype 2 [- - ]for the ε, Gγ, Aγ, 5′ and 3′ψβ-globin sites, and also segregated with the TGTTC haplotype, which was constructed with five polymorphic sites of the β-globin gene [exon 1-nucleotide (nt) 6 (C>T) and IVS-II-16 (C>G), IVS-II-46 (T>C), IVS-II-74 (G>T), and IVS-II-81 (C>T). In 1994, a variant with an additional mutation at codon 111 [β111(G13)Val→Leu] was described in five Spanish families. This variant was termed Hb Fannin-Lubbock-II, and the question of the existence of Hb Fannin-Lubbock-I arose. However, based on our findings, we were able to confirm the existence of Hb Fannin-Lubbock-I and propose that this mutation has a different origin from the one identified in Spanish families. © Informa UK Ltd.
URI: http://hdl.handle.net/20.500.12104/65220
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