A Japanese Family with Hereditary HbH Disease

—A Case Report and Its Gene Analysis—

Abstract

Hereditary HbH disease was found in a Japanese family. The propositus showed hypochromic microcytic anemia and chronic hemolysis. HbH inclusion bodies were detected in red cells, and an abnormal band corresponding HbH was found in an isoelectric focusing of the hemolysate.
Gene analysis of the propositus revealed double heterozygosity for α⁺ and α⁰ thalassemias. Four of six his siblings shared the α⁰ thalassemia and one the α⁺ thalassemia. Another one was normal. The α⁺ thalassemia was of 3.7kb-deletion type and α⁰ was close to Southeast Asian type.
This is the fourth Japanese family with hereditary HbH disease.