Hb A2-Pasteur-Tunis [delta59(E3)Lys-->Asn, AAG-->AAC]: a new delta chain variant detected by DNA sequencing in a Tunisian carrier of the codon 39 (C-->T) beta0-Thalassemia mutation.
We describe a new delta-globin variant, Hb A2-Pasteur-Tunis [delta59(E3)Lys-->Asn, AAG-->AAC]. This hemoglobin (Hb) displayed an electrophoretic mobility faster than normal Hb A2 and was expressed at 2.2 %. The molecular defect was characterized by DNA sequencing and confirmed by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)-designed protocol. Hb A2-Pasteur-Tunis was found in a carrier of a codon 39 (C-->T) beta0-thalassemia (thal), presenting with a normal Hb A2 level. Phenotype and genotype investigations revealed that the total Hb A2 level of the patient was that expected for a minor beta-thal (4.8%).
Moumni
Imen
I
Laboratoire d'Hématologie Moléculaire et Cellulaire, Institut Pasteur, Tunis, Tunisia.
Zorai
Amine
A
Daoued
Bechir Ben
BB
Mosbahi
Ikbel
I
Omar
Souheil
S
Kaabachi
Neziha
N
Dellagi
Koussay
K
Abbes
Salem
S
D000595:Amino Acid Sequence; D000747:Anemia, Hypochromic / Q000235:genetics*; D001483:Base Sequence; D001797:Blood Protein Electrophoresis / Q000379:methods; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D005914:Globins / Q000737:chemistry / Q000235:genetics; D006443:Hemoglobin A2 / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification*; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins; D006443:Hemoglobin A2