Hb Valletta [β87(F3)Thr→Pro] and Hb Marseille Long Island [β2(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 [β87(F3)Thr→Pro] in association with Hb Marseille Long Island [β2(NA2)His→Pro; (-1)Met-(+1)Val-(+2)Pro-Leu] and a normal Hb electrophoretogram. The data serve to alert investigators to the possib...

Full description

Saved in:
Bibliographic Details
Published in:Hemoglobin 2010-04, Vol.34 (2), p.169-174
Main Authors: Galdies, Ruth, Cassar, Wilhelmina, Pizzuto, Monica, Scerri, Christian A., Felice, Nicholas, Cassar, Olivianne A., Buttigieg, George, Felice, Alex E.
Format: Article
Language:English
Subjects:
beta-Globins - genetics
Blood Transfusion
England - ethnology
Female
Globin chromatography
Hb F-Malta-I
Hb Marseille/Long Island
Hb Valletta
Hemoglobin (Hb)
Hemoglobins, Abnormal - genetics
Hemorrhage - etiology
Hemorrhage - therapy
Heterozygote
Humans
Identification
Infant, Newborn
Male
Malta
Middle Aged
Pedigree
Phenotype
Pregnancy
Pregnancy Complications, Hematologic - genetics
Pregnancy Complications, Hematologic - therapy
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:This study refers to the quantitative hemoglobin (Hb) phenotype of a 19-year-old female with Hb Valletta [β87(F3)Thr→Pro] in association with Hb Marseille Long Island [β2(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.
ISSN:0363-0269
1532-432X
DOI:10.3109/03630261003673675