Journal of Nippon Medical School: Vol.71 No.4 page.297

Journal of Nippon Medical School

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ArticleTitle Two Children with Thalassemia Identified During Screening for Anemia in Junior High School

AuthorList Miho Maeda¹, Yoshitaka Fukunaga¹, Kiyohiko Kaizu¹, Keiko Harano² and Teruo Harano²

Affiliation ¹Department of Pediatrics, Nippon Medical School
²Department of Biochemistry, Kawasaki Medical School

Language EN

Volume 71

Issue 4

Year 2004

Page 297-300

Received March 9, 2004

Accepted April 2, 2004

Keywords thalassemia, α-thalassemia, β-thalassemia, screening, anemia

Abstract
We present two Japanese students with thalassemia identified during screening for anemia in their junior high school. Blood test results revealed marked hypochromic and microcytic erythrocytosis in one patient and microcytic anemia in the other. Both cases showed a mean corpuscular volume/red blood cell (MCV/RBC) ratio less than 13. Their β/α synthesis ratio was elevated. Deletion of ψα2, ψα1, α2, α1 and &thetas;1 genes in the α-globin gene clusters were noted in the first case. This pattern of gene deletion was consistent with heterozygous α-thalassemia 1 of the Southeast Asian type. On the other hand, an increased hemoglobin A₂ level and reduced β/α synthesis ratio were found in the second case. Direct cloning and DNA sequencing identified a point mutation (guanine to adenine) at position 1 of intervening sequence II in the β-globin gene (IVS II-1 G→A). These results suggest that this patient had heterozygous β⁰-thalassemia.

Diagnosis of thalassemia should be confirmed by molecular analysis in cases with microcytic anemia or hypochromic microcytosis with a MCV/RBC ratio of 13 or less.

Correspondence to Miho Maeda, Department of Pediatrics, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan
maeda@nms.ac.jp

ArticleTitle	Two Children with Thalassemia Identified During Screening for Anemia in Junior High School
AuthorList	Miho Maeda¹, Yoshitaka Fukunaga¹, Kiyohiko Kaizu¹, Keiko Harano² and Teruo Harano²
Affiliation	¹Department of Pediatrics, Nippon Medical School ²Department of Biochemistry, Kawasaki Medical School
Language	EN
Volume	71
Issue	4
Year	2004
Page	297-300
Received	March 9, 2004
Accepted	April 2, 2004
Keywords	thalassemia, α-thalassemia, β-thalassemia, screening, anemia
Abstract	We present two Japanese students with thalassemia identified during screening for anemia in their junior high school. Blood test results revealed marked hypochromic and microcytic erythrocytosis in one patient and microcytic anemia in the other. Both cases showed a mean corpuscular volume/red blood cell (MCV/RBC) ratio less than 13. Their β/α synthesis ratio was elevated. Deletion of ψα2, ψα1, α2, α1 and &thetas;1 genes in the α-globin gene clusters were noted in the first case. This pattern of gene deletion was consistent with heterozygous α-thalassemia 1 of the Southeast Asian type. On the other hand, an increased hemoglobin A₂ level and reduced β/α synthesis ratio were found in the second case. Direct cloning and DNA sequencing identified a point mutation (guanine to adenine) at position 1 of intervening sequence II in the β-globin gene (IVS II-1 G→A). These results suggest that this patient had heterozygous β⁰-thalassemia. Diagnosis of thalassemia should be confirmed by molecular analysis in cases with microcytic anemia or hypochromic microcytosis with a MCV/RBC ratio of 13 or less.
Correspondence to	Miho Maeda, Department of Pediatrics, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan maeda@nms.ac.jp