A 6-year-old girl with hemoglobin H disease.

Abstract

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.

• Authors: Takahiro Ueda, Makoto Migita, Miho Yamanishi, Miho Maeda, Keiko Harano, Yoshitaka Fukunaga
• Journal: Journal of Nippon Medical School = Nippon Ika Daigaku zasshi (J Nippon Med Sch) Vol. 78 Issue 2 Pg. 101-4 ( 2011) ISSN: 1347-3409 [Electronic] Japan
• PMID: 21551967 (Publication Type: Case Reports, Journal Article)

Chemical References

• alpha-Globins
• Hemoglobin H

Topics

• Child
• Erythrocytes (pathology)
• Female
• Gene Deletion
• Hemoglobin H (metabolism)
• Humans
• Inclusion Bodies (pathology)
• Isoelectric Focusing
• alpha-Globins (genetics)
• alpha-Thalassemia (blood, metabolism)