Hemoglobin Sabine [beta 91 (F7) Leu-->Pro]: occurrence in a Sardinian individual with hemolytic anemia and inclusion bodies.
BACKGROUND
Hemoglobin (Hb) Sabine (beta 91 Leu-->Pro) is an unstable variant detected for the first time in a 16-year-old Scottish-English-German girl affected by moderately severe hemolytic anemia. A second case was described in a patient of Yugoslavian descent. We report another case of this Hb variant arising as a de novo mutation in a Sardinian patient.


METHODS
Definition of the mutation was obtained by DNA direct sequencing on amplified beta-globin gene, as well as by structural analysis of the hemoglobin variant.


CONCLUSIONS
The patient presented a moderately severe hemolytic anemia with red blood cell inclusion bodies. Hemoglobin electrophoresis showed that quantitatively the abnormal fraction represented 9% of the total Hb amount. beta globin gene analysis revealed a single nucleotide substitution, T-->C, at codon 91, which gives rise to a leucine-->proline substitution. Structural analysis of the variant confirmed the amino acid substitution (Leu-->Pro) predicted by DNA sequencing.
Gasperini
D
D
Istituto di Clinica e Biologia dell'Età Evolutiva, Università di Cagliari, Italy.
Galanello
R
R
Melis
M A
MA
Iannelli
S
S
Giordano
P
P
Bernini
L F
LF
Cao
A
A
D000328:Adult; D000743:Anemia, Hemolytic / Q000097:blood / Q000209:etiology* / Q000601:surgery; D004252:DNA Mutational Analysis; D004912:Erythrocytes / Q000473:pathology; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000150:complications / Q000473:pathology*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics; D006801:Humans; D002479:Inclusion Bodies; D007558:Italy; D008297:Male; D009154:Mutation; D013156:Splenectomy
D006455:Hemoglobins, Abnormal; C001646:hemoglobin Sabine; D005914:Globins