HB Q India in Two Sindhi Hindu Families of Sindh

Abstract

Abstract: Hemoglobin Q is one of the alpha chain variants resulting from structural changes in alpha 1 globin gene. It is often heterozygous in form and clinically silent even in the presence of beta thalassemia trait in compound heterozygous form. We identified two Sindhi Hindu families with hemoglobin Q India, one is compound heterozygous for Hb Q India and thalassemia trait, while other has heterozygous Hb Q India variant. These samples were booked for routine hemoglobinopathy screening and the variant was suspected after finding an unknown peak at a retention time of 4.68 seconds, performed on high performance liquid chromatography(HPLC). For confirmation, these samples were sent for DNA analysis for the presence of suspected Hb Q India mutation, using amplification refractory mutation system (ARMS).