HB Geelong [β139(H17)ASN→ASP]
作者:
ComoP. F.,
HockingD. R.,
SwintonG. W.,
TrentR. J.,
HollandR. A.B.,
TibbenE. A.,
WilkinsonT.,
KronenbergH.,
期刊:
Hemoglobin
(Taylor Available online 1991)
卷期:
Volume 15,
issue 1-2
页码: 85-95
ISSN:0363-0269
年代: 1991
DOI:10.3109/03630269109072487
出版商: Taylor&Francis
数据来源: Taylor
摘要:
Hb Geelong [β139(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 (β+-thalassemic phenotype in the propositus. The electrophoretic properties of Hb A and Hb Geelong are similar on cellulose acetate in both acidic and alkaline conditions. The electrophoretic mobility and the amino acid analysis ofβxT-14 indicated the substitution Asn→Asp atβ139. The sequence ofβXT-14 was confirmed by dansyl-Edman degradation. The slight increase observed in the P50of whole blood is not intrinsic to theβ139 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 eitherβ+-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.
点击下载:
PDF (392KB)
返 回