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CONTACT | |
Internal; central cavity; alpha1beta1 contact | |
HEMATOLOGY | |
Normal in the heterozygote; reticulocytosis | |
ELECTROPHORESIS | |
Hb X moves slower than Hb A in IEF | |
CHROMATOGRAPHY | |
Not reported; the betaX, betaA, and alpha chains can be separated on a CM-cellulose column (the Clegg procedure) | |
STRUCTURE STUDIES | |
Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC or fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation TGT->CGT at codon 112 | |
FUNCTION STUDIES | |
Not determined | |
STABILITY | |
Unstable | |
OCCURRENCE | |
In several members of a Spanish family | |
OTHER INFORMATION | |
1) Quantity in the heterozygote was determined by scanning of the strip revealing the separation of the betaX, betaA, and alpha chains; it was found to be 38-40% betaX and 60-62% betaA. 2) The beta112 Cys->Arg replacement was originally assigned to an abnormal Hb in two members of an European family. Both persons had severe hemolytic anemia with reticulocytosis and were splenectomized. The Hb variant was found to be extremely unstable and its identity could only be studied by biosynthetic analysis in which a radio-active abnormal peak was observed. Unfortunately, the identification of this fraction was incorrect; instead of a Cys->Arg replacement at beta112 as originally observed, a beta106 Leu->Arg change was found in subsequent DNA analysis. The variant was renamed Hb Terre Haute (Ref. 4). | |
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REFERENCES |
1. | |
Adams, J.G., III, Boxer, L.A., Baehner, R.L., Forget, B.G., Tsistrakis, G.A., and Stein-berg, M.H.: J. Clin. Invest., 63:931, 1979. | |
2. | |
Adams, J.G., Steinberg, M.H., Boxer, L.A., Baehner, R.L., Forget, B.G., Tsistrakis, G.A.: J. Biol. Chem., 254:3479, 1979. | |
3. | |
Baiget, M., Gomez Pereira, C., Jue, D.l., Johnson, M.h., McGuffey, J.E., and Moo-Penn, W.F.: Hemoglobin, 10:483, 1986 | |
4. | |
Coleman, M.B., Steinberg, M.H., and Adams, J.G., III: Blood, 76:57a (Suppl. 1), 1990. | |