Molecular characterization of a Chinese pedigree with beta-thalassemia intermedia.
Hereditary persistence of fetal hemoglobin (HPFH), often associated with mutations in the beta-globin gene cluster, is normally benign, but a person carrying both HPFH and another beta-thalassemia (beta-thal) mutation will develop serious anemia. These people might be erroneously diagnosed as having homozygous beta-thal with common reverse dot-blot methods. Here we report a 5-year old boy with thalassemia intermedia, who is a compound heterozygote for the rare HPFH-6 deletion with codons 41/42 (-TCTT) beta(0)-thal, who inherited the deletion from his mother and the beta(41/42) mutation from his father.
Huang
Ge
G
Research Center of Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, People's Republic of China.
Jiang
Wen-Ling
WL
Rong
Ka-Bin
KB
Li
Yun-Xiong
YX
Luo
Xian-Ling
XL
Meng
Jin-Xiu
JX
Yu
Xi-Yong
XY
D000328:Adult; D002675:Child, Preschool; D002681:China; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D003951:Diagnostic Errors; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis*; D006579:Heterozygote; D006801:Humans; D015151:Immunoblotting; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D003062:Codon; D055544:beta-Globins; D005319:Fetal Hemoglobin