A new Spanish family with Hb Louisville.
作者信息
Villegas A, Malcorra J J, Balda I, Calero F, Porres A, Alvarez-Sala J L, Espinós D
机构信息
Hospital Universitario San Carlos, Universidad Complutense de Madrid, Spain.
出版信息
Am J Med Genet. 1989 Jan;32(1):9-14. doi: 10.1002/ajmg.1320320103.
PMID:2705488
Abstract
The clinical, hematological, and biochemical characteristics of a new family with heterozygous hemoglobin (Hb) Louisville are described. The family showed a decrease in both oxygen affinity and cooperativity with the normal Bohr effect. This family has the greatest number of affected members reported to date. Among the descendants, two first cousins (III-10 and III-11), both of whom are affected by the heterozygous trait of Hb Louisville, had had three abortions of undetermined causes.
摘要
相似文献
1
A new Spanish family with Hb Louisville.
Am J Med Genet. 1989 Jan;32(1):9-14. doi: 10.1002/ajmg.1320320103.
2
Hemoglobin SO Arab and hemoglobin CO Arab diseases. Clinical and laboratory study.
Am J Pediatr Hematol Oncol. 1983 Summer;5(2):127-31.
3
[Hemoglobin Setif (alpha 94 (G1) Asp----Tyr) in a Spanish family].
Sangre (Barc). 1990 Jun;35(3):201-4.
4
Characterization of a new hemoglobin variant: Hb Badalona (beta31[B13]Leu-->Val).一种新的血红蛋白变异体的特征：Hb 巴达洛纳（β31[B13]亮氨酸→缬氨酸）
Ann Hematol. 2002 Apr;81(4):179-81. doi: 10.1007/s00277-002-0447-6. Epub 2002 Mar 22.
5
Heterozygous Hb Hope [beta136(H14)Gly --> Asp] in association with heterozygous beta0-thalassemia with apparent homozygous expression, in a Spanish patient.一名西班牙患者中，杂合子Hb Hope [β136(H14)甘氨酸→天冬氨酸] 与具有明显纯合子表达的杂合子β0地中海贫血相关。
Hemoglobin. 2006;30(1):45-9. doi: 10.1080/03630260500454238.
6
Hematological and molecular characteristics of Hb Sarrebourg [beta131(H9)Gln-->Arg (CAG-->CGG)] found in a Spanish family.在一个西班牙家庭中发现的血红蛋白萨勒堡[β131(H9)谷氨酰胺→精氨酸(CAG→CGG)]的血液学和分子特征。
Hemoglobin. 2007;31(2):183-5. doi: 10.1080/03630260701286082.
7
[Association of alpha thalassemia and Hb G Philadelphia in a Spanish family].
Sangre (Barc). 1988 Jun;33(3):224-8.
8
Erythrocyte function and marrow regulation in hemoglobin Bethesda (beta-145 histidine).血红蛋白贝塞斯达（β-145组氨酸）中的红细胞功能与骨髓调节
J Clin Invest. 1972 Nov;51(11):2883-8. doi: 10.1172/JCI107111.
9
[Hemoglobin Sétif (alpha 94(G1) Asp yields Tyr). Genetic, biochemical and hematological studies (author's transl)].
Nouv Rev Fr Hematol. 1974 Sep-Oct;14(5):627-40.
10
High oxygen affinity hemoglobin variant in a Canadian family: Hb Bunbury [beta94(FG1)Asp-->Asn, GAC-->AAC].
Hemoglobin. 2007;31(1):101-3. doi: 10.1080/03630260601059241.
引用本文的文献
1
Effects of hemoglobin variants on hemoglobin a1c values measured using a high-performance liquid chromatography method.血红蛋白变体对采用高效液相色谱法测定的糖化血红蛋白值的影响。
J Diabetes Sci Technol. 2014 Nov;8(6):1168-76. doi: 10.1177/1932296814538774. Epub 2014 Jun 22.
2
Pitfalls of glycated hemoglobin in the glycemic assessment of diabetes patients with hemoglobin louisville: role of serum fructosamine.糖化血红蛋白在路易维尔血红蛋白糖尿病患者血糖评估中的陷阱：血清果糖胺的作用
J Diabetes Sci Technol. 2013 May 1;7(3):804-5. doi: 10.1177/193229681300700329.
Zotero 插件