Hb Valletta [beta87(F3)Thr-->Pro] and Hb Marseille/Long Island [beta2(NA2)His-->Pro; (-1)Met-(+1)Val-(+2)Pro-Leu], in a unique compound heterozygote with a normal hemoglobin phenotype.
This study refers to the quantitative hemoglobin (Hb) phenotype of a 19-year-old female with Hb Valletta [beta87(F3)Thr-->Pro] in association with Hb Marseille/Long Island [beta2(NA2)His-->Pro; (-1)Met-(+1)Val-(+2)Pro-Leu] and a normal Hb electrophoretogram. The data serve to alert investigators to the possibility that relatives with apparently normal Hb phenotypes may be transmitting mutant alleles and suggest methods for identification.
Galdies
Ruth
R
Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta. rgald01@um.edu.mt
Cassar
Wilhelmina
W
Pizzuto
Monica
M
Scerri
Christian A
CA
Felice
Nicholas
N
Cassar
Olivianne A
OA
Buttigieg
George
G
Felice
Alex E
AE
D001803:Blood Transfusion; D004739:England / Q000208:ethnology; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006470:Hemorrhage / Q000209:etiology / Q000628:therapy; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008319:Malta; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000235:genetics* / Q000628:therapy; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C068750:hemoglobin Valletta; C044001:hemoglobin Marseille