Document Detail


Hemoglobin E disorders in Eastern Uttar Pradesh.
MedLine Citation:
PMID:  19136801     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The distribution of hemoglobin E (alpha2beta2 26Glu (R)Lys ) is mostly restricted to Northeastern India. While evaluating the patients of jaundice, we came across two cases of hemoglobin E (Hb E) disorders. The first case is in a 22-year-old Bengali male and the second case of Hb E/beta thalassemia in a 5-year-old Hindu boy. The family study revealed Hb E trait in both the parents of Case 1, whereas in Case 2, the father was found to have Hb E trait and the mother had beta -thalassemia minor, thus confirming the diagnosis. Herein, we present the laboratory diagnosis and comparative data of the spectrum of Hb E disorders (i.e., heterozygous Hb E trait, homozygous Hb E disease and compound heterozygous Hb E/beta -thalassemia) that was found in our index cases and their parents.
Authors:
Shashikant C U Patne; Jyoti Shukla
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Indian journal of pathology & microbiology     Volume:  52     ISSN:  0974-5130     ISO Abbreviation:  Indian J Pathol Microbiol     Publication Date:    2009 Jan-Mar
Date Detail:
Created Date:  2009-01-12     Completed Date:  2009-03-12     Revised Date:  2009-05-21    
Medline Journal Info:
Nlm Unique ID:  7605904     Medline TA:  Indian J Pathol Microbiol     Country:  India    
Other Details:
Languages:  eng     Pagination:  110-2     Citation Subset:  IM    
Affiliation:
Department of Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi - 221005, Uttar Pradesh, India.
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MeSH Terms
Descriptor/Qualifier:
Adult
Amino Acid Substitution / genetics
Family Health
Hemoglobin E / genetics*
Hemoglobinopathies / diagnosis*
Humans
India
Male
Mutation, Missense
Parents
Young Adult
Chemical
Reg. No./Substance:
9034-61-1/Hemoglobin E

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


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