New genetic complexity underlying atypical iron disorders

Most disorders of primary iron overload and iron‐refractory anaemia have a genetic origin. Mutations in the HFE gene cause hereditary haemochromatosis (HH) and account for about 90% of HH in European populations, however mutations in other genes (termed non‐HFE HH) are being increasingly identified in non‐European populations. A combination of low awareness, high cost and non‐standardized methodology for definitive diagnosis is likely leading to under‐recognition of HH in these populations. As many Asia‐Pacific countries achieve improved nutrition and access to healthcare, it is possible that hitherto unrecognized hereditary iron overload conditions will be unmasked. We have developed Next Generation Sequencing technology to diagnose genetic iron overload and deficiency disorders in a systematic fashion.