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Two de novo mutations in one beta globin chain: hemoglobin Atlanta-Coventry, beta 75 Leu----Pro and beta 141 Leu
Reverse phase HPLC analysis of a hemolysate from a patient with hemolytic anemia revealed the presence of three different beta globins. Reverse phase Peptide mapping and amino acid analysis indicated that one was normal beta A (66%), one was beta Atlanta (beta 75 Leu----Pro, 23%) and the third, beta Atlanta-Coventry, contained two mutations beta 75 Leu----Pro and beta 141 Leu deleted. The parents and four siblings of the propositus had only beta A chains, while two of his children inherited the beta Atlanta and beta Atlanta-Coventry chains from him, and beta A Chains from their mother. His third child was normal, possessing only beta A chains.
Reverse phase HPLC analysis of a hemolysate from a patient with hemolytic anemia revealed the presence of three different beta globins. Reverse phase Peptide mapping and amino acid analysis indicated that one was normal beta A (66%), one was beta Atlanta (beta 75 Leu----Pro, 23%) and the third, beta Atlanta-Coventry, contained two mutations beta 75 Leu----Pro and beta 141 Leu deleted. The parents and four siblings of the propositus had only beta A chains, while two of his children inherited the beta Atlanta and beta Atlanta-Coventry chains from him, and beta A Chains from their mother. His third child was normal, possessing only beta A chains.