Molecular Characterization of a Chinese Pedigree with β-Thalassemia Intermedia

Abstract

Hereditary persistence of fetal hemoglobin (HPFH), often associated with mutations in the β-globin gene cluster, is normally benign, but a person carrying both HPFH and another β-thalassemia (β-thal) mutation will develop serious anemia. These people might be erroneously diagnosed as having homozygous β-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) β⁰-thal, who inherited the deletion from his mother and the β^41/42 mutation from his father.

Keywords:

• Hereditary persistence of fetal hemoglobin (HPFH)
• β-Thalassemia (β-thal)
• Gap-polymerase chain reaction (gap-PCR)
• Reverse dot-blot assay