The Dutch IVS-I-116 (A --> G) (alpha2) thalassemia mutation induces Hb H inclusion bodies when found in combination with the -alpha3.7 deletion defect.
Harteveld
Cornelis L
CL
Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, AL Leiden, The Netherlands.
Van Lom
Kirsten
K
Gomez Garcia
Encarna B
EB
van Delft
Peter
P
Giordano
Piero C
PC
D000328:Adult; D000483:Alleles; D005260:Female; D005914:Globins / Q000235:genetics*; D006447:Hemoglobin H / Q000032:analysis*; D006801:Humans; D002479:Inclusion Bodies / Q000737:chemistry*; D009426:Netherlands; D010641:Phenotype; D017354:Point Mutation; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000235:genetics*
D005914:Globins; D006447:Hemoglobin H