TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia

•TMPRSS6 as an important regulator of human iron homeostasis.•Among Saudi females, TMPRSS6 RNA levels are lower in IDA and IRIDA patients than controls.•To investigate TMPRSS6 gene mutation in 6 Saudi families of probands with IDA and IRIDA.•p.W73X, p.E523K and p.V736A functional mutations in these families were suggested.•V736A was present in all families with IRIDA and p.W73X was present in 2 families.