De novo heterozygous Hb G-Waimanalo (α64(E13)Asp>Asn, CTG>CCG; HBA1:c.193G>A) variant in a sickle cell disease patient of an Indian tribe

Haemoglobinopathies (thalassaemia and haemoglobin (Hb) variants) are the most common of all inherited monogenic disorders. More than 1800 mutations in alpha or beta globin genes are known to be responsible for haemoglobinopathies.1 The clinical spectrum of haemoglobinopathies is quite heterogeneous and depends on the underlying mutations. Here, we report, a de novo emergence of rare alpha chain variant Hb G-Waimanalo in a sickle cell disease...