Document Detail


Hb Bristol-Alesha presenting thalassemia-type hyperunstable hemoglobinopathy.
MedLine Citation:
PMID:  15646651     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Hemoglobin (Hb) Bristol-Alesha is caused by a GTG --> ATG mutation at codon 67 in the Hb beta chain, resulting in abnormal beta globin chains with mutated molecules from normal beta67 valine (Val) to beta67 methionine (Met) or beta67 aspartate (Asp). We describe a Japanese child with this rare hemoglobinopathy and a very unstable Hb molecule phenotype. The diagnosis of hemolytic anemia was made when the patient was 6 months of age. Development of marked splenomegaly necessitated red blood cell transfusions twice a month. After splenectomy when the patient was 4 years of age, laboratory findings of hemolytic anemia became more prominent. Specific abnormal Hb molecules initially were not detected, and the alpha/beta globin synthesis ratio was abnormal at 2.22. After splenectomy, we identified the presence of abnormal beta-globin chains with a beta67Val:beta67Met:beta67Asp molecule ratio of 74:11:15. We speculate that the high fraction of the beta67Met molecule in this patient, compared with that in previously reported cases, caused extreme Hb instability, which resulted in thalassemic hyperunstable hemoglobinopathy and very severe clinical findings.
Authors:
Gen Kano; Akira Morimoto; Shigeyoshi Hibi; Chika Tokuda; Shinjiro Todo; Tohru Sugimoto; Teruo Harano; Ayako Miyazaki; Akira Shimizu; Shinsaku Imashuku
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  International journal of hematology     Volume:  80     ISSN:  0925-5710     ISO Abbreviation:  Int. J. Hematol.     Publication Date:  2004 Dec 
Date Detail:
Created Date:  2005-01-13     Completed Date:  2005-02-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9111627     Medline TA:  Int J Hematol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  410-5     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. gkano@koto.kpu-m.ac.jp
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Substitution / genetics*
Anemia, Hemolytic / etiology,  genetics,  metabolism,  pathology
Blood Transfusion
DNA Mutational Analysis
Hemoglobinopathies / complications,  genetics*,  metabolism,  pathology,  therapy
Hemoglobins, Abnormal / genetics*,  metabolism
Humans
Infant
Male
Point Mutation / genetics*
Prognosis
Splenectomy
Splenomegaly / etiology,  pathology
Thalassemia / etiology,  genetics,  metabolism,  pathology
Chemical
Reg. No./Substance:
0/Hemoglobins, Abnormal; 149531-76-0/hemoglobin Alesha; 9034-56-4/hemoglobin Bristol

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


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