Hb Molfetta [beta126(H4)Val-->Leu, GTG-->CTG]: a new, silent, neutral beta chain variant found in an Italian woman.
We have identified a new neutral hemoglobin variant in a pregnant Italian woman, that resulted from a GTG-->CTG replacement at codon 126 of the beta chain, corresponding to a Val-->Leu amino acid change at position beta126(H4). Thermal and isopropanol stability tests were normal and there were no abnormal clinical features. Routine electrophoretic and ion exchange chromatographic methods for hemoglobin separation failed to show this variant, but reversed phase high performance liquid chromatography revealed an abnormal peak eluting near the normal beta chain. No abnormal tryptic peptide was revealed on the high performance liquid chromatographic elution pattern of the total globin digest. The mutation was determined at the DNA level by amplification of the three beta exons by polymerase chain reaction and direct sequencing of one exon that showed an abnormal migration on single strand conformational polymorphism analysis.
Qualtieri
Antonio
A
Institute of Experimental Medicine and Biotechnology, National Research Council, Cosenza, Italia. qualtieri@imseb.cnr.it
Le
Pera Maria
PM
Pedace
Vera
V
Magariello
Angela
A
Brancati
Carlo
C
D000328:Adult; D019943:Amino Acid Substitution; D001797:Blood Protein Electrophoresis; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics; D006801:Humans; D007558:Italy; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D006455:Hemoglobins, Abnormal; C465353:hemoglobin Molfetta; D005914:Globins