Homozygous α Thalassemia/HB G Philadelphia

Publisher Website
Google Scholar
Abstract
Microcytic red cells from a 70-yr-old Negro man with mild anemia contained only Hb G-Philadelphia. Red cells from all of his children had low-normal MCV [mean cell volume], and contained 32-34% of the abnormal hemoglobin. O2 affinity of his blood and stability of his hemolysate were normal, suggesting that his mild anemia was not caused by the abnormal Hb. Restriction endonuclease analyses of DNA from the proband and his offspring showed that the .alpha. G-Philadelphia globin gene exists in only 1 copy/chromosome. The new gene was probably created by an unequal crossover which deleted an .alpha. globin coding sequence (derived from one or both .alpha. globin genes), as well as some or all of the DNA sequence between those genes.