Hb Koya Dora: An Under-recognized Variant of Alpha Thalassemia in India
摘要
α-thalassemia is a lesser diagnosed form of hemoglobinopathy, mainly due to limited diagnostic tools available to confirm this entity. Molecular tests are commonly required to confirm the diagnosis, accessibility to which is difficult at times. There is profound phenotypic heterogeneity in different types of α-thalassemia, making it challenging to suspect the same. Subtle and easily overlooked clues in the hemoglobin electrophoresis or high performance liquid chromatography may be a pointer towards the diagnosis. Awareness about these subtle clues is paramount for diagnosis, as targeted next generation sequencing test done very commonly for unexplained haemolytic anemia may miss α-thalassemia as some of these panels may lack HBA1 and HBA2 genes. This series discuss four cases of Hemoglobin Koya Dora, a type of non-deletional α-thalassemia. The varying genotype and its association with clinical phenotype are briefly discussed.