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 β41/42 mutation from his father.
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