Hb Mississippi | beta44(CD3)Ser->Cys |
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CONTACT | Heme contact | ||
HEMATOLOGY | Normal in the heterozygote; Heinz body formation after oxidant stress | ||
ELECTROPHORESIS | More than one Hb zone might be present; three abnormal bands observed in globin chain electrophoresis | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation TCC->TGC at codon 44 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Mildly unstable; formation of high molecular weight multi-mers (with other chains) | ||
OCCURRENCE | Found in a Chinese family | ||
OTHER INFORMATION | Occurs together with an undefined, presumably beta+-thal in the proband, causing a phenotype of thalassemia intermedia |
REFERENCES | |||
1. | Steinberg, M.H., Adams, J.G., III, Morrison, W.T., Pullen, D.J., Abney, R., Ibrahim, A., and Rieder, R.F.: J. Clin. Invest., 79:826, 1987. |