A greater than 200 kb deletion removing the entire beta-like globin gene cluster in a family of Irish descent.
We describe a new deletional form of gamma delta beta-thalassemia segregating in two generations of a family of Irish descent. Affected family members present with a beta-thalassemia minor phenotype, normal Hb A2 and Hb F levels. Genomic blotting analyses on DNA from affected family members show heterozygosity for a large deletion beginning at least 15 kb upstream of the 5' endpoint of the gamma delta beta-thalassemia-1 deletion, extending through the entire beta-like globin gene cluster, and continuing for at least 10 kb beyond the 3' endpoint of the deletion associated with the Spanish form of delta beta 0-thalassemia. This deletion is among the largest described so far, and removes at least 205 kb encompassing the entire beta-like globin gene cluster on chromosome 11.
Fortina
P
P
Division of Hematology, Children's Hospital of Philadelphia, PA.
Delgrosso
K
K
Werner
E
E
Haines
K
K
Rappaport
E
E
Schwartz
E
E
Surrey
S
S
D000328:Adult; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000648:ultrastructure*; D015342:DNA Probes; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000235:genetics*; D006443:Hemoglobin A2 / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D007494:Ireland / Q000208:ethnology; D007567:Jaundice, Neonatal / Q000209:etiology; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D013789:Thalassemia / Q000235:genetics*
D015342:DNA Probes; D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin