Adult-onset leukodystrophy with homozygous AARS2 mutation located in the aminoacylation domain.

Abstract

Anemia is a common and predominant blood disorder globally, in which the level of hemoglobin or healthy red blood cells are abnormally lower. The most common type of anemia is iron-deficiency anemia (IDA), and the treatment is iron supplementation to the individuals. In some conditions, the iron supplementation does not alter the hemoglobin range, which means the iron given is not taken up by the body of the individual. This condition is found to be iron-refractory IDA (IRIDA). It is the genetic condition, in which the hepcidin, an iron regulatory hormone expression is altered. IRIDA is a rare genetic disorder, which is autosomal recessive in inheritance pattern. Hepcidin alteration blocks the iron absorption, which in turn causes anemic condition. The transmembrane protease serine 6 (TMPRSS6) gene is involved in negative regulation of hepcidin along with the encoding of matriptase-2 enzyme, which is crucial for iron balance in the human body. Matriptase-2 regulates the iron homeostasis by balancing the hepcidin hormone. The genetic polymorphisms in the TMPRSS6 gene result in this a rare type of anemic condition. Therefore, this review particularly focuses on the IRIDA and TMPRSS6 gene, hepcidin, and matriptase-2 enzyme. The review on IRIDA is being found to be important since the clear metabolism of hepcidin and matriptase-2 in iron metabolism are still unclear.