Delta +-thalassemia in Sardinia.

Abstract

We have defined a new type of delta-thalassemia in which beta-globin chain synthesis is incompletely suppressed. Homozygotes have unusually low HbA2 levels, and double heterozygosity for this delta-thalassemia gene and beta-thalassemia normalizes the HbA2 level. The delta-thalassemia occurs on a chromosome that is identifiable using polymorphic restriction endonuclease sites. We call this condition delta +-thalassemia, to distinguish it from the previously described delta 0-thalassemia syndromes in which no delta-globin chain synthesis occurs.

• Authors: M Pirastu, R Galanello, M A Melis, C Brancati, A Tagarelli, A Cao, Y W Kan
• Journal: Blood (Blood) Vol. 62 Issue 2 Pg. 341-5 (Aug 1983) ISSN: 0006-4971 [Print] United States
• PMID: 6307432 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Hemoglobins, Abnormal
• Hemoglobin A2
• DNA Restriction Enzymes

Topics

• Chromosome Mapping
• DNA Restriction Enzymes (metabolism)
• Hemoglobin A2 (biosynthesis)
• Hemoglobins, Abnormal (biosynthesis)
• Heterozygote
• Homozygote
• Humans
• Italy
• Male
• Pedigree
• Thalassemia (blood, epidemiology, genetics)