| Sickle cell-Hb Lepore Boston syndrome. Uncommon differential diagnosis to homozygous sickle cell disease. | |
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MedLine Citation:
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PMID: 7055103 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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M C Stevens; H Lehmann; K P Mason; B E Serjeant; G R Serjeant |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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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:
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Created Date: 1982-03-26 Completed Date: 1982-03-26 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0370471 Medline TA: Am J Dis Child Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 19-22 Citation Subset: AIM; IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acids
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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:
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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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