In Hb J-Singapore, the alpha78(EF7)Asn-->Asp and alpha79(EF8)Ala-->Gly substitutions were initially thought to be genetic mutations. Subsequent studies on other similar hemoglobin variants suggested that the Asn-->Asp change was a posttranslational modification. Nevertheless, lack of DNA evidence made it difficult to confirm the deamidation in Hb J-Singapore. We recently encountered a female patient with Hb J-Singapore trait. In this report, we present electrospray mass spectrometry and DNA data to confirm the alpha78(EF7)Asn-->Asp is indeed a posttranslational modification.
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| http://dx.doi.org/10.1080/03630260701603567 | DOI Listing |
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