Komeno T, Itoh T, Shinagawa Y, Hattori Y, Ohba Y, Nagasawa T, Abe T
Division of Hematology, University of Tuskuba.
Rinsho Ketsueki. 1996 Jun;37(6):506-10.
A 20-year-old Japanese woman was admitted to our hospital with anemia and mild splenomegaly. Peripheral blood examination revealed Hb 9.4 g/dl, Ht 29.3%, RBC 4.74 x 10(6)/microliters, reticulocytes 2.4%, WBC 5,200/microliters, platelets 24.9 x 10(4)/microliters, MCV 61.7 fl, and MCH 19.9 pg. Poikilocytosis with target cells was recognized on the peripheral blood smear. A bone marrow aspirate revealed erythroid hyperplasia. Serum iron and ferritin were in the normal range. beta-thalassemia was suggested by the increase in HbA2 (6.5%) and HbF (7.5%). Analysis of beta globin DNA by single strand conformation polymorphism (SSCP) and amplification refractory mutation system (ARMS) confirmed a diagnosis of homozygous beta(+)-thalassemia due to -31 A to G mutation. A familial study revealed that her parents were heterozygous for this allele. This is the 8th case of homozygous beta(+)-thalassemia due to -31 A to G mutation in Japan.
一名20岁的日本女性因贫血和轻度脾肿大入住我院。外周血检查显示血红蛋白9.4 g/dl，血细胞比容29.3%，红细胞4.74×10⁶/微升，网织红细胞2.4%，白细胞5200/微升，血小板24.9×10⁴/微升，平均红细胞体积61.7 fl，平均红细胞血红蛋白含量19.9 pg。外周血涂片可见异形红细胞伴靶形细胞。骨髓穿刺显示红系增生。血清铁和铁蛋白在正常范围内。HbA2（6.5%）和HbF（7.5%）升高提示β地中海贫血。通过单链构象多态性（SSCP）和扩增阻滞突变系统（ARMS）分析β珠蛋白DNA，确诊为因-31 A至G突变导致的纯合β（+）-地中海贫血。家族研究显示，她的父母均为该等位基因的杂合子。这是日本第8例因-31 A至G突变导致的纯合β（+）-地中海贫血病例。
