RESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Embarazo , Adulto , Talasemia beta/tratamiento farmacológico , Embarazo de Alto Riesgo , Complicaciones Hematológicas del Embarazo/terapiaRESUMEN
We report the hematological and molecular characteristics of Hb Sarrebourg [beta131(H9)Gln-->Arg (CAG-->CGG)] found in nine members of a Spanish family. All the carriers were heterozygous for the variant and hematologically normal. Up to now this hemoglobin (Hb) variant has only been reported once before, in a boy of Turkish origin.
Asunto(s)
Asparagina , Glutamina , Hemoglobinas Anormales/genética , Polimorfismo de Nucleótido Simple , Sustitución de Aminoácidos , Femenino , Globinas/genética , Humanos , Masculino , Linaje , EspañaRESUMEN
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.
