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.

Serum ferritin levels and endocrinopathy in medically treated patients with β thalassemia major.

The association between iron overload indices and pathology of the heart and liver in transfusion-dependent patients with β thalassemia major (TM) has been extensively studied. Nonetheless, data on endocrine disease remains limited. This was a cross-sectional study of 382 TM patients treated with regular transfusions and desferrioxamine at the Thalassemia Center in Dubai, UAE.