Heterozygous Hb Hope [β136(H14)Gly→Asp] in Association with Heterozygous β⁰-Thalassemia with Apparent Homozygous Expression, in a Spanish Patient

Abstract

Hb Hope [β136(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 β⁰-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 β-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.

Keywords:

• Hb Hope
• Hb Hope/β-thalassemia (thal)
• Compound heterozygosity
• Homozygous expression
• Spanish