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A case of hemoglobin Indianapolis [beta 112(G14) Cys----Arg] in an individual from Cordoba, Spain.

作者信息

Baiget M, Gomez Pereira C, Jue D L, Johnson M H, McGuffey J E, Moo-Penn W F

出版信息

Hemoglobin. 1986;10(5):483-94. doi: 10.3109/03630268609014133.

DOI:10.3109/03630268609014133
PMID:3781865
Abstract

Hemoglobin Indianapolis was first described by Adams et al (1,2) as a very unstable variant with a phenotype similar to severe beta-thalassemia. We have also characterized this variant, but there are several differences in the clinical expression of the variant described in our report and those described in the original case. We found Hb Indianapolis to be unstable, but not to the extent that it could not be detected by routine testing. The four family members heterozygous for the variant were not anemic, showed normal hematologic values, and did not exhibit any severe clinical disadvantages, although there was slight reticulocytosis. The variant could not be resolved from Hb A on cellulose acetate (pH 8.4), but isoelectric focusing showed a double band in the region of Hb A that is probably the variant and Hb A. However, the variant chain was clearly evident by globin chain analyses in acid and alkaline buffers. The condition of additional blood samples did not allow us to determine the oxygen dissociation properties of the variant or the rates of globin chain synthesis.

摘要

相似文献

1
A case of hemoglobin Indianapolis [beta 112(G14) Cys----Arg] in an individual from Cordoba, Spain.
Hemoglobin. 1986;10(5):483-94. doi: 10.3109/03630268609014133.
2
Identification by fast atom bombardment mass spectrometry of Hb Indianapolis [beta 112(G14)Cys----Arg] in a family from Naples, Italy.
Hemoglobin. 1988;12(4):323-36. doi: 10.3109/03630268808998033.
3
Hb Indianapolis [beta112 (G14) Cys-->Arg] as the probable cause of moderate hemolytic anemia and renal damage in a Brazilian patient.血红蛋白印第安纳波利斯型[β112(G14)半胱氨酸→精氨酸]可能是一名巴西患者中度溶血性贫血和肾损伤的病因。
Am J Hematol. 2007 Jul;82(7):672-5. doi: 10.1002/ajh.20860.
4
Hemoglobin Indianapolis (beta 112[G14] arginine). An unstable beta-chain variant producing the phenotype of severe beta-thalassemia.血红蛋白印第安纳波利斯型(β112[G14]精氨酸)。一种不稳定的β链变异体,产生严重β地中海贫血的表型。
J Clin Invest. 1979 May;63(5):931-8. doi: 10.1172/JCI109393.
5
Low output hemoglobins which produce the phenotype of thalassemia.产生地中海贫血表型的低输出血红蛋白。
Prog Clin Biol Res. 1981;55:81-98.
6
[Hemoglobin Boumerdès alpha 2(37) (C2) Pro----Arg beta 2: a new variant of the alpha chain associated with hemoglobin S in an Algerian family].
Nouv Rev Fr Hematol (1978). 1987;29(5):317-20.
7
Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis.
J Biol Chem. 1991 Mar 25;266(9):5798-800.
8
Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2.埃文斯顿血红蛋白:α14(A12)位色氨酸突变为精氨酸。一种与α地中海贫血-2相关的变异血红蛋白。
Biochim Biophys Acta. 1983 Sep 14;747(1-2):65-70. doi: 10.1016/0167-4838(83)90122-x.
9
Hb Tunis [alpha 2 beta 2 124 (H2)Pro----Ser], a new beta chain variant identified by HPLC.突尼斯血红蛋白[α2β2 124(H2)脯氨酸→丝氨酸],一种通过高效液相色谱法鉴定出的新型β链变体。
Hemoglobin. 1988;12(1):23-30. doi: 10.3109/03630268808996879.
10
Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val----Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia.
Am J Hematol. 1990 Oct;35(2):96-9. doi: 10.1002/ajh.2830350206.

引用本文的文献

1
The molecular basis of β-thalassemia.β-地中海贫血的分子基础。
Cold Spring Harb Perspect Med. 2013 May 1;3(5):a011700. doi: 10.1101/cshperspect.a011700.