Heterozygous Hb Hope [beta136(H14)Gly --> Asp] in association with heterozygous beta0-thalassemia with apparent homozygous expression, in a Spanish patient.
Hb Hope [beta136(H14)Gly --> Asp (GGT --> GAT)] has been found alone or in combination with other globin gene mutations in several African-American families, as well as in Japanese, Thai, Laotian, Cuban and Mauritanian families. We report the hematological and molecular characteristics of a heterozygous association of Hb Hope with beta0-thalassemia (thal) in a Spanish patient, in whom the level of expression of abnormal hemoglobin (Hb) by cation exchange high performance liquid chromatography (HPLC) and electrophoresis suggested initially a homozygous expression of the abnormal Hb, although sequencing of the polymerase chain reaction (PCR)-amplified beta-globin gene demonstrated a heterozygous genotype for Hb Hope. To the best of our knowledge, this is the first description of a case of Hb Hope in a Spanish family.
Unitat d'Anèmies i Eritropatologia, Hematologia, Laboratoris Clínics, Hospital Vall d'Hebron, Barcelona, España. dbeneite@vhebron.net
David
D
Beneitez
Alícia
A
Carrera
Joan Ramón
JR
Duran-Suárez
Victoria
V
Paz
Antonio
A
León
Juan
J
García Talavera
D000328:Adult; D000740:Anemia / Q000235:genetics; D002851:Chromatography, High Pressure Liquid; D004586:Electrophoresis; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013030:Spain; D017086:beta-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C038623:hemoglobin Hope