-Case Reports-

A 6-year-old Girl with Hemoglobin H Disease

Takahiro Ueda¹, Makoto Migita¹, Miho Yamanishi¹, Miho Maeda¹, Keiko Harano² and Yoshitaka Fukunaga¹

¹Department of Pediatrics, Graduate School of Medicine, Nippon Medical School
²Department of Clinical Nutrition, Faculty of Medical Health Science and Technology, Kawasaki University of Medical Welfare

Hemoglobin H (HbH) disease is the severe nonfatal form of α-thalassemia syndrome. It is usually caused by molecular defects of 3 of 4 α-globin genes (--/-α) which cause α-globin expression to be decreased. HbH disease is rare in Japan. Here, we report on a 6-year-old girl with HbH disease who had profound hypochromatic and microcytic anemia. Analysis of the α-globin genes of the patient's family showed that the father, who was Japanese, had an abnormal gene with a 3.7-kb deletion (-α^3.7/αα), and the mother, who was Filipino, had a deletion removing both α-globin genes of the Filipino type (--^FIL/αα). Neither parent had anemia. The patient was found to have HbH disease with a heterozygous genetic abnormality (--^FIL/-α^3.7). Recently, the number of marriages of Japanese to natives of areas where thalassemia is epidemic has increased. Therefore, the incidence of HbH disease can be expected to increase in Japan. Long-term follow-up will be needed to evaluate the long-term complications and to improve the quality of life of patients with HbH disease.

J Nippon Med Sch 2011; 78: 101-104

Keywords
α-thalassemia, hemoglobin H disease, microcytic anemia

Correspondence to
Takahiro Ueda, MD, Department of Pediatrics, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8602, Japan
yuri878t@nms.ac.jp

Received, September 6, 2010
Accepted, November 1, 2010