The correct answer is option 1. HPLC of the husband should be advised.
HbD Punjab is a structural hemoglobin variant that is usually clinically benign in the heterozygous state (HbAD). Therefore, identification of HbD Punjab in the mother alone is not an indication for termination of pregnancy. However, HbD Punjab is important because it can be inherited by the fetus, may interact with other haemoglobin variants, and can result in clinically significant disease when combined with certain hemoglobinopathies.
The important next step is to evaluate the husband for an underlying hemoglobinopathy, particularly HbS or β-thalassaemia, as compound heterozygosity in the offspring may result in a clinically significant hemoglobin disorder. Based on the husband's results, the couple should receive appropriate genetic counselling and, if indicated, prenatal diagnostic testing.
Although HbD Punjab is generally clinically silent, it can become clinically significant when inherited alongside other hemoglobin variants, such as sickle haemoglobin (HbS) or β-thalassaemia. In particular, HbSD Punjab disease can present with manifestations similar to sickle cell disease, including vaso-occlusive complications, while HbD Punjab/β-thalassaemia may produce a variable clinical phenotype ranging from mild to moderately severe anaemia
Reference:
- Torres Lde S, Okumura JV, Silva DG, Bonini-Domingos CR. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. Rev Bras Hematol Hemoter. 2015 Mar-Apr;37(2):120-6.
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