HB Fannin-Lubbock-I with a single GGC>GAC mutation at beta119(GH2)Gly-->Asp in a homozygous Mexican patient.
We studied a fast-moving, abnormal hemoglobin (Hb) identified as Fannin-Lubbock-I [beta119(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' beta-globin haplotype analysis showed that the mutation was associated with haplotype 2 [- + + - +]for the epsilon, (G)gamma, (A)gamma, 5' and 3 'psibeta-globin sites, and also segregated with the TGTTC haplotype, which was constructed with five polymorphic sites of the beta-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 [beta111(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.
Ibarra
Bertha
B
División de Genética, Centro de Investigación Biomédica de Occidente, CMNO, IMSS, Guadalajara, Jalisco, México. bibarra@mail.udg.mx
Aizpuru
Edna
E
Sánchez-López
J Yoaly
JY
Morales
Karina R
KR
Perea
Francisco J
FJ
Ruiz-Reyes
Guillermo
G
D005091:Exons; D005192:Family Health; D005260:Female; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008800:Mexico; D010375:Pedigree; D017354:Point Mutation; D055544:beta-Globins / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C032030:hemoglobin Fannin-Lubbock