Misdiagnosis of Hb D-Punjab/β-thalassemia is a potential pitfall in hemoglobinopathy screening programs: a case report.

Compound heterozygosity for Hb D-Punjab [β121(GH4)Glu→Gln, GAA>CAA] /β-thalassemia (β-thal) must be carefully differentiated from homozygous Hb D-Punjab in premarital screening. This is essential when the partner is a carrier of β-thal trait. The case of a baby born affected with β-thal major (β-TM), from a marriage between a mother with β-thal trait and a father with Hb D-Punjab/β-thal, is presented. The father had been misdiagnozed as homozygous Hb D-Punjab during premarital screening, even though the screening program utilized complete blood counts and high performance liquid chromatography (HPLC). The factors that may have contributed to this midsiagnosis are presented and discussed. It is recommended that cases of Hb D-Punjab, or any other hemoglobin (Hb) variant appearing as homozygous, are carefully evaluated if microcytic hypochromic parameters not associated with α-thal are present. In all cases of suspected hemizygosis, molecular analysis should always be performed, and in particular if one partner is a β-thal carrier.