Literature DB >> 8080886

Hb Nottingham or alpha 2 beta 2 98 (FG5) Val-->Gly in a Czech child.

V Brabec1, K Indrák, H Fortová, J Suttnar, B Blazek, J Cermák, V Divoký, L Vepreková, J Zeman.   

Abstract

We report a fourth case of Hb Nottingham [alpha 2 beta 2 98 (FG5) Val-->Gly] observed in an 8-year-old girl in the Czech Republic with clinical 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 abnormalities. Splenectomy had a beneficial effect on the degree of hemolysis, as well as on the Hb level.

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Year:  1994        PMID： 8080886     DOI： 10.1007/bf01698489

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   3.673


  13 in total

1.  HEREDITARY HEINZ-BODY ANAEMIA. A REPORT OF STUDIES ON FIVE PATIENTS WITH MILD ANAEMIA.

Authors:  J V DACIE; A J GRIMES; A MEISLER; L STEINGOLD; E H HEMSTED; G H BEAVEN; J C WHITE
Journal:  Br J Haematol       Date:  1964-07       Impact factor: 6.998

2.  Hb Nottingham or alpha 2 beta 2(98)(FG5)Val----Gly observed as a de novo mutation in a Canadian child.

Authors:  B Cepreganova; J B Wilson; T H Huisman; H A Hume
Journal:  Hemoglobin       Date:  1992       Impact factor: 0.849

3.  Hb Köln or alpha 2 beta 2(98)(FG5)Val----Met in a Czechoslovakian family.

Authors:  K Indrak; V Brabec; J B Wilson; B B Webber; T H Huisman
Journal:  Hemoglobin       Date:  1991       Impact factor: 0.849

4.  Hb E [beta 26(B8)Glu----Lys] in a Czechoslovakian family.

Authors:  H Fortová; J Suttnar; V Brabec; M Pavlík; O Hrodek
Journal:  Hemoglobin       Date:  1991       Impact factor: 0.849

5.  Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta-thalassemia trait in a Czech family.

Authors:  V Divoky; M Svobodova; K Indrak; L Chrobak; T P Molchanova; T H Huisman
Journal:  Hemoglobin       Date:  1993-08       Impact factor: 0.849

6.  Haemoglobin Nottingham, beta FG 5 (98) valgly: a new unstable haemoglobin producing severe haemolysis.

Authors:  E C Gordon-Smith; J V Dacie; T E Blecher; E A French; B G Wiltshirre; H Lehmann
Journal:  Proc R Soc Med       Date:  1973-06

7.  Separation of hemoglobin variants by ion-exchange chromatography on Monobead resins.

Authors:  W F Moo-Penn; D L Jue
Journal:  J Chromatogr       Date:  1985-01-18

8.  Hb Nottingham (alpha2beta2 (FG5) 98 val leads to gly) in a Caucasian male: clinical and biosynthetic studies.

Authors:  E P Orringer; A Felice; A Reese; J B Wilson; H Lam; M E Gravely; T H Huisman
Journal:  Hemoglobin       Date:  1978       Impact factor: 0.849

Review 9.  Unstable hemoglobins.

Authors:  Y Ohba
Journal:  Hemoglobin       Date:  1990       Impact factor: 0.849

10.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205
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