Characterization of a new alpha-thalassemia-1 mutation in a Spanish family.
A novel alpha-thalassemia-1 deletion of 14-15.4 kb that removes the alpha-2, alpha-1, theta-1 genes and pseudo-alpha-1 genes, has been detected in a father and 2 of his children from northern Spain.
Villegas
A
A
Hematology Service, Hospital Universitario San Carlos, Madrid, Spain.
Sanchez
J
J
Ricard
P
P
Gonzalez
F A
FA
Del Potro
E
E
Armada
B
B
Carreno
D L
DL
Espinos
D
D
D000328:Adult; D015139:Blotting, Southern; D002648:Child; D002885:Chromosomes, Human, Pair 16; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D011544:Pseudogenes; D013030:Spain / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*
D005914:Globins