Correlation of clinical phenotype to genotype in haemoglobin H disease.
Clinical assessment, haematological studies, and globin gene mapping were performed in 21 Greek subjects with haemoglobin H disease. Clinical phenotypes ranged from mild, and virtually asymptomatic, to severe cases requiring transfusion. The severe clinical phenotype was exclusively associated with non-deletion genotypes, whereas the mild and intermediate phenotypes occurred with deletion genotypes. Patients with non-deletion genotypes had higher levels of Hb H. For deletion genotypes of haemoglobin H disease, the value of antenatal diagnosis is questionable. In non-deletion genotypes, antenatal diagnosis should be considered, because of the more severe clinical course observed in these patients.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes / Q000032:analysis; D005838:Genotype; D006447:Hemoglobin H / Q000032:analysis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D010641:Phenotype; D013789:Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D006447:Hemoglobin H; D004262:DNA Restriction Enzymes