Document Detail


Sickle cell-Hb Lepore Boston syndrome. Uncommon differential diagnosis to homozygous sickle cell disease.
MedLine Citation:
PMID:  7055103     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Two siblings assumed on the basis of clinical and hematological evidence to have homozygous sickle cell (SS) disease were found to have a mother without sickle hemoglobin. Subsequent investigation and hemoglobin structural studies indicated the diagnosis to be sickle cell-Hb Lepore Boston syndrome. This syndrome generally manifests clinically significant sickle cell disease, and this genotype should be borne in mind in apparent SS disease where a parent without sickle hemoglobin in discovered.
Authors:
M C Stevens; H Lehmann; K P Mason; B E Serjeant; G R Serjeant
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of diseases of children (1960)     Volume:  136     ISSN:  0002-922X     ISO Abbreviation:  Am. J. Dis. Child.     Publication Date:  1982 Jan 
Date Detail:
Created Date:  1982-03-26     Completed Date:  1982-03-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370471     Medline TA:  Am J Dis Child     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  19-22     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Amino Acids / analysis
Anemia, Sickle Cell / genetics*
Child
Diagnosis, Differential
Female
Hemoglobins, Abnormal*
Homozygote
Humans
Male
Pedigree
Sickle Cell Trait / diagnosis,  genetics*
Syndrome
Thalassemia / diagnosis
Chemical
Reg. No./Substance:
0/Amino Acids; 0/Hemoglobins, Abnormal; 39289-38-8/hemoglobin Lepore Boston

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


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