Hb Twin Peaks | alpha113(GH1)Leu->His |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X can be detected by IEF; it focuses close to Hb A | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | The alphaX chain separates from alphaA by CM-cellulose chromatography; tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; digestion of the insoluble core with chymotrypsin HPLC chromatography; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation CTC->CAC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a family of Mexican-Irish descent | ||
OTHER INFORMATION | Quantity in the heterozygote ~23% |
REFERENCES | |||
1. | Guis, M., Mentzer, W.C., Jue, D.L., Johnson, M.H., McGuffey, J.E., and Moo-Penn, W.F.: Hemoglobin, 9:175, 1985. |