Two de novo mutations in one beta globin chain: hemoglobin Atlanta-Coventry, beta 75 Leu----Pro and beta 141 Leu deleted.
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.
S O
SO
Brennan
D
D
Williamson
W A
WA
Symmans
R W
RW
Carrell
D000328:Adult; D000595:Amino Acid Sequence; D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000235:genetics; D002851:Chromatography, High Pressure Liquid; D005260:Female; D005914:Globins / Q000235:genetics* / Q000302:isolation & purification; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification; D006801:Humans; D008297:Male; D008957:Models, Genetic; D009154:Mutation
D006455:Hemoglobins, Abnormal; C035046:hemoglobin Atlanta; C032209:hemoglobin Coventry; D005914:Globins