Document Detail


Hb Geelong [beta 139(H17)Asn----Asp]
MedLine Citation:
PMID:  1917539     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Hb Geelong [beta 139(H17)Asn----Asp] was detected in a German woman of Polish-Russian descent. It is an unstable variant which appears to increase the severity of a beta (+)-thalassemic phenotype in the propositus. The electrophoretic properties of Hb A and Hb Geelong are similar on cellulose acetate in both acidic and alkaline conditioning. The electrophoretic mobility and the amino acid analysis of beta XT-14 indicated the substitution Asn----Asp at beta 139. The sequence of beta XT-14 was confirmed by dansyl-Edman degradation. The slight increase observed in the P50 of whole blood is not intrinsic to the beta 139 substitution, but is thought to result from an increased 2,3-diphosphoglycerate level in response to anemia. No family studies were possible to investigate the mode of inheritance of either beta (+)-thalassemia or Hb Geelong in the propositus. Synthetic globin chain ratios suggest that impaired synthesis of the variant globin chain is partially responsible for the low level of Hb Geelong in peripheral blood.
Authors:
P F Como; D R Hocking; G W Swinton; R J Trent; R A Holland; E A Tibben; T Wilkinson; H Kronenberg
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Hemoglobin     Volume:  15     ISSN:  0363-0269     ISO Abbreviation:  Hemoglobin     Publication Date:  1991  
Date Detail:
Created Date:  1991-10-31     Completed Date:  1991-10-31     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  85-95     Citation Subset:  IM    
Affiliation:
Haematology Department, Royal Prince Alfred Hospital, Camperdown, N.S.W., Australia.
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MeSH Terms
Descriptor/Qualifier:
2,3-Diphosphoglycerate
Adult
Amino Acid Sequence
Diphosphoglyceric Acids / blood
Female
Globins / genetics*
Hemoglobinopathies / blood,  complications,  genetics*
Hemoglobins, Abnormal / chemistry,  genetics*
Humans
Molecular Sequence Data
Oxygen / metabolism
Phenotype
Thalassemia / blood,  complications,  genetics
Chemical
Reg. No./Substance:
0/Diphosphoglyceric Acids; 0/Hemoglobins, Abnormal; 136218-61-6/hemoglobin Geelong; 138-81-8/2,3-Diphosphoglycerate; 7782-44-7/Oxygen; 9004-22-2/Globins

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


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