[A Japanese family with hereditary HbH disease--a case report and its gene analysis].
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 alpha + and alpha zero thalassemias. Four of six his siblings shared the alpha zero thalassemia and one the alpha + thalassemia. Another one was normal. The alpha + thalassemia was of 3.7 kb-deletion type and alpha zero was close to Southeast Asian type. This is the fourth Japanese family with hereditary HbH disease.
Hattori
Y
Y
Department of Clinical Laboratory Sciences, Yamaguchi University School of Medicine.
Yamashiro
Y
Y
Yamamoto
K
K
Morishita
M
M
Miyaji
T
T
Yamamoto
K
K
Matsuno
Y
Y
Fujii
H
H
Miwa
S
S
Ichimaru
M
M
D000328:Adult; D005190:Family; D005796:Genes; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D010375:Pedigree; D015183:Restriction Mapping; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D006447:Hemoglobin H