HH-NOTTINGHAM OR ALPHA(2)BETA(2)-98-(FG5)-VAL-]GLY IN A CZECH CHILD

Authors
BRABEC V INDRAK K FORTOVA H SUTTNAR J BLAZEK B CERMAK J DIVOKY V VEPREKOVA L ZEMAN J
Citation
V. Brabec et al., HH-NOTTINGHAM OR ALPHA(2)BETA(2)-98-(FG5)-VAL-]GLY IN A CZECH CHILD, Annals of hematology, 69(2), 1994, pp. 93-95
Citations number
16
Categorie Soggetti
Hematology
Journal title
Annals of hematology → ACNP
ISSN journal
09395555
Volume
69
Issue
2
Year of publication
1994
Pages
93 - 95
Database
ISI
SICI code
0939-5555(1994)69:2<93:HOAIAC>2.0.ZU;2-I
Abstract
We report a fourth case of Hb Nottingham [alpha(2) beta(2) 98 (FG5) Va l-->Gly] observed in an 8-year-old girl in the Czech Republic with cli nical and laboratory symptoms of severe hemolytic anemia. The unstable hemoglobin probably represents a de novo mutation, since the parents of the patient and the two siblings do not exhibit any hematological a bnormalities. Splenectomy had a beneficial effect on the degree of hem olysis, as well as on the Hb level.