| Hb Geelong [beta 139(H17)Asn----Asp] | |
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MedLine Citation:
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PMID: 1917539 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Hemoglobin Volume: 15 ISSN: 0363-0269 ISO Abbreviation: Hemoglobin Publication Date: 1991 |
Date Detail:
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Created Date: 1991-10-31 Completed Date: 1991-10-31 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7705865 Medline TA: Hemoglobin Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 85-95 Citation Subset: IM |
Affiliation:
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Haematology Department, Royal Prince Alfred Hospital, Camperdown, N.S.W., Australia. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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:
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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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