No abstract

No abstract

We describe an English family with an atypical 'yS6-thalassemia syndrome. Heterozygosity results in a ft-thalassemia phenotype with normal hemoglobin A2. However, unlike previously described cases, no history of neonatal hemolytic anemia requiring blood transfusion was obtained. Gene mapping showed a deletion that extended from the third exon of the G-yglobin gene upstream for -100 kilobases (kb). The Ay-globin, #(3-, 5-, and fl-globin genes in cis remained intact. The malfunction of the fl-globin gene on a chromosome in which the deletion is located 25 kb away suggests that chromatin structure and conformation are important for globin gene expression.

can be assigned to the /3E11 valine methyls. The spectra of isolated a and ß chains indicate the a-and /3-chain con-

No abstract

No abstract

No abstract

No abstract