Document Detail


Southeast Asian ovalocytosis in White persons.
MedLine Citation:
PMID:  10081985     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe two White persons, a girl and her mother, presenting with Southeast Asian ovalocytosis. The child was evaluated for scoliosis. The red cell indices were normal but the cell counter triggered an alarm due to a high fraction of hyperdense red cells. Blood smears showed ovalocytes and ovalostomatocytes. Red cells exhibited a total lack of deformability upon osmotic gradient ektacytometry performed immediately after blood drawing. Analysis of nucleic acids and proteins ascertained a 27 nucleotide deletion, resulting in the loss of amino acids 400 to 408, and the presence in cis of the Memphis I polymorphism. The sulfate transport was diminished by more than 50%. There was no acidosis. In vitro invasion of ovalocytes by Plasmodium falciparum was decreased. The mother presented with the same hematological picture. On the whole, the condition was Southeast Asian ovalocytosis in all respects. The present kindred had ancestors who had inhabited islands in the Southwestern Indian Ocean.
Authors:
P O Schischmanoff; T Cynober; F Miélot; L Leclerc; C Vasseur-Godbillon; V Baudin-Creuza; C Magowan; J Yeung; N Mohandas; G Tchernia; J Delaunay
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Hemoglobin     Volume:  23     ISSN:  0363-0269     ISO Abbreviation:  Hemoglobin     Publication Date:  1999 Feb 
Date Detail:
Created Date:  1999-06-22     Completed Date:  1999-06-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  47-56     Citation Subset:  IM    
Affiliation:
Service de Biochimie I, INSERM U 473, Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France. delaunay@kb.inserm.fr
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MeSH Terms
Descriptor/Qualifier:
Adult
Anion Exchange Protein 1, Erythrocyte / genetics
Antiporters / genetics
Asia, Southeastern
Child
Chloride-Bicarbonate Antiporters
Elliptocytosis, Hereditary / blood,  genetics*,  physiopathology
European Continental Ancestry Group
Female
Humans
Mutation
Chemical
Reg. No./Substance:
0/Anion Exchange Protein 1, Erythrocyte; 0/Antiporters; 0/Chloride-Bicarbonate Antiporters

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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