title: Two new mutations in cis on (G)gamma chain of fetal hemoglobin: Hb F-Madrid [G gamma 50(D1)Ser-->Cys] and [G gamma 75(E19)Ile-->Thr].
abstract: We describe a new structural hemoglobin variant of (G)gamma with two amino acid replacements in cis found in the umbilical cord blood of a neonate in Madrid, Spain. The substitutions were identified on exon 2 of the (G)gamma globin gene, at codon 50 (T CT-->T GT) and at codon 75 (A TA-->A CA). We have named it Hb F-Madrid. The father of the propositus was the carrier of the same (G)gamma chain variant and, moreover, molecular study of alpha genes revealed the loss of an alpha gene (-alpha(3.7)/alpha alpha) both in the propositus and his mother.
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Clinico San Carlos, Facultad de Medicina, Universidad Complutense, c/o Prof. Martín Lagos s/n, 28040 Madrid, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Hojas
authors.forename: A
authors.initials: A
authors.lastname: Villegas
authors.forename: P
authors.initials: P
authors.lastname: Ropero
authors.forename: F
authors.initials: F
authors.lastname: Valverde
authors.forename: A
authors.initials: A
authors.lastname: Nogales
authors.forename: F A
authors.initials: FA
authors.lastname: González
authors.forename: C
authors.initials: C
authors.lastname: José
authors.forename: L
authors.initials: L
authors.lastname: Villar
authors.forename: C
authors.initials: C
authors.lastname: García
mesh_terms: D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D003545:Cysteine; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D005319:Fetal Hemoglobin / Q000737:chemistry / Q000235:genetics*; D005914:Globins / Q000737:chemistry / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D007532:Isoleucine; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012694:Serine; D013030:Spain; D013912:Threonine
chemical_list: D006455:Hemoglobins, Abnormal; C473627:hemoglobin Madrid 2; D007532:Isoleucine; D013912:Threonine; D012694:Serine; D005914:Globins; D005319:Fetal Hemoglobin; D003545:Cysteine