tailieunhanh - Báo cáo y học: "Hb J- Meerut [α 120 (H3) Ala -Glu (α1)] In A Turkish Male"

Tuyển tập các báo cáo nghiên cứu khoa học ngành y học tạp chí Medical Sciences dành cho các bạn sinh viên ngành y tham khảo đề tài: Hb J- Meerut [α 120 (H3) Ala -Glu (α1)] In A Turkish Male. | Int. J. Med. Sci. 2006 3 26 International Journal of Medical Sciences ISSN 1449-1907 2006 3 1 26-27 2006 Ivyspring International Publisher. All rights reserved Case report Hb J- Meerut a 120 H3 Ala - Glu a1 In A Turkish Male Gunẹag Dinọol 1 Serkan Gũvenẹ 1 Dedrey Elam 2 Abdullah Kutlar 2 Ferdane Kutlar 2 1. Division of Hematology Department of Internal Medicine Istanbul Medical School University of Istanbul Qapa Istanbul Turkey 2. Titus . Huisman Hemoglobinopathy Laboratory Department of Medicine Medical College of Georgia Augusta Georgia USA Corresponding address Ferdane Kutlar MD Titus . Huisman Hemoglobinopathy Laboratory Department of Medicine Medical College of Georgia Augusta Georgia USA. FKUTLAR@ Received Accepted Published Hb J Meerut is an infrequently found a-globin variant. It has previously been reported in various populations around the world. One particular case reported in 1994 included a Turkish family. In this report details of a second case of Hb J Meerut in a Turkish male who is unrelated to the first family are described. In the present case a slight increase in the oxygen affinity of Hb J Meerut relative to that of the normal control has been observed as detected by low p50 values in arterial whole blood. Additionally a slight increase in red blood cell count as compared against a normal individual was observed. Key words Hb J-Meerut a 120 H3 Ala- Glu a1 DNA analysis Turkish male slightly increased oxygen affinity 1. INTRODUCTION Hb J-Meerut results from a C - A mutation GCG- GAG at codon 120 of the al or a2 globin gene changing the alanine to glutamic acid at residue 120 of the a chain 1 2 3 . This variant was first reported in two sisters from Meerut Utlar Pradesh India 1 and in two brothers from Bangladesh living in Birmingham England 2 subsequently the same abnormal hemoglobin was described in one Japanese family 4 and in one Turkish family 5 . The present study provides .