Loss of Essential Blood Cell Gene Leads to Anemia

Recently in Science Daily news there has been a discovery of a new type of gene which regulates hemoglobin synthesis during red blood cell formation. These types of findings have been able to relate to treatment of human anemias and different types of mitochondrial disorders. Researchers first tested this on zebrafish. The fish were genetically screened to clone this mitchodontrial factor connected to the gene called Atpif1.



This is the gene which allows to successfully make hemoglobin. Hemoglobin is the protein in red blood cells which allows the transportation of oxygen in the blood. Atpif1 not present in the body can result into anemia. This gene also regulates enzymatic activity of ferrochelatase. This is also known as Fech, which is the terminal enzyme in heme which is a part of hemoglobin. This gene has allowed to successfully modulate the synthesis for the heme production. The deficiency of gene Atpif1 can relate to congential sideroblastic anemias. This is a disease in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells.

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There is constant research being done in order to identify genes which can be responsible for hematopoietic stem cell development. Slowly researchers are looking into more of these works they have been doing and creating better opportunities for human congenital anemia’s. The number of visits emergency departments with anemia as the primary diagnosis has been estimated as to 5.3 million. Hopefully there will be more research done for many more successful treatments among humans.