Hb Hanamaki | alpha139(HC1)Lys->Glu |
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CONTACT | External | ||
HEMATOLOGY | Normal-to-mild erythrocytosis in the heterozygote | ||
ELECTROPHORESIS | A fast-moving band on cellulose acetate at alkaline pH and by IEF; Hb X does not separate from Hb A on agar gel | ||
CHROMATOGRAPHY | Hb A and Hb X can be separated by cation exchange chromatography | ||
STRUCTURE STUDIES | Tryptic digestion of alphaX chain; reversed phase HPLC to separate the soluble peptides; amino acid analysis; tandem mass spectrometry to confirm the mutation | ||
DNA ANALYSES | Not reported; presumed mutation AAA->GAA; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Significantly increased oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in members of a Japanese family and in a 63-year-old man, his sister, and daughter, all of English-Irish-French-Native American ancestry | ||
OTHER INFORMATION | Quantity in the heterozygote about 25% |
REFERENCES | |||
1. | Orisaka, M., Tajima, T., Harano, T., Harano, K., Kushida, Y., and Imai, K.: Hemoglobin, 16:67, 1992. | ||
2. | Rahbar, S., Lee, T.D., Davis, M., Novotny, W.F., and Ranney, H.M.: Hemoglobin, 18:221, 1994. |