Hb Port Huron | alpha56(E5)Lys->Arg |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | No separation observed | ||
CHROMATOGRAPHY | No separation observed; the electrophortetic pattern of the Hb of the carrier was consistent with that of an Hb E heterozygote | ||
STRUCTURE STUDIES | The tryptic peptides were separated by reversed phase HPLC and their amino acid composition determined | ||
DNA ANALYSES | Limited to an Nla IV digestion of a PCR obtained alpha gene fragment that gave two specific fragments due to an AAG-> AGG mutation at codon 56; the mutated gene (alpha2 or alpha1) was not defined | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in an African-American family | ||
OTHER INFORMATION | Some members were heterozygous for Hb E [beta26(B8)Glu-> Lys) and the discovery of the additional alpha-Port Huron mutation was accidental |
REFERENCES | |||
1. | Zwerdling, T., Williams, S., Nasr, S.A., and Rucknagel, D.L.: Hemoglobin, 15: 381, 1991. |