Hb Ann Arbor | alpha80(F1)Leu->Arg |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote; when associated with alpha-thal: hemolytic anemia, hypochromia, microcytosis, target cells, and reticulocytosis | ||
ELECTROPHORESIS | Hb X moves slower than Hb S on starch gel at alkaline pH | ||
CHROMATOGRAPHY | Hb X was isolated on a DEAE-Sephadex column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CTG->CGG; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a Caucasian family | ||
OTHER INFORMATION | Quantity in heterozygotes 2-5%, and 10-15% when in combination with alpha-thal; there is evidence that the alphaX chain is rapidly catabolized |
REFERENCES | |||
1. | Rucknagel, D.L., Brandt, N.J., and Spencer, H.H.: In Genetical, Functional and Physical Studies of Hemoglobin, edited by T. Arends, G. Bemski, and R. Nagel, Karger AG, Basel, 1971. | ||
2. | Adams, J.G., III, Winter, W.P., Rucknagel, D.L., and Spencer, H.H.: Science, 176:1427, 1972. |