Hb Sallanches: A Rare Mutational Variant of Alpha Thalassemia with Codon 105 Involvement

Abstract

Abstract: Thalassemia is the most prevalent disease in our part of the world. Due to its mode of inheritance, timely diagnosis and identification can help in eradicating the fatal and life threatening consequences of this disease. With the advent of new molecular and genetic testing, many novel and rare mutations have been diagnosed that have their own clinical implications. We hereby report a case of a 40 year old male with multiple comorbidities and significant family history of sibling death at early age. He was worked up and identified as a case Hb Sallanches which is a rare mutational variant of Alpha thalassemia with codon 105 involvement. This case report highlights the significance of timely diagnosis and identification of this disease in order to limit its fatal consequences on morbidity and mortality. This will assist in improving quality of life of such patients and will also help them to plan and save their future generations from this disease.