A mutation in the JAK2 gene is the major cause of Polycythemia Vera or an increased number of red blood cells [1].
GATA 1
GATA1 (GATA binding protein 1 or globin transcription factor 1) is essential for normal red blood cell production (erythropoiesis) [2, 3, 4].
The GATA1 regulates the growth, division, and survival of immature red blood cells and platelets [5, 6, 7].
Mutations in GATA1 cause anemias and thrombocytopenia in human patients [8, 9].
Mutations in this gene are present in almost all cases of acute leukemia associated with Down’s syndrome.
ZFPM1
ZFPM1 gene (Zinc finger protein) is also known as FOG1 (friend of GATA1).
ZFPM1 plays an essential role in red blood cell production. Interaction of ZFPM1 with GATA1 is essential for the function of GATA1 in red blood cell growth [10].
STIL (SCL/TAL1 interrupting locus)
STIL plays an essential role in red blood cell production [11, 12, 13].
EKLF1 (Erythroid Kruppel-like Factor 1)
EKLF1 is a gene that is necessary for the proper maturation of red blood cells [14].
EKLF participates in the production of adult globin chains [15].
Mutations in this gene are associated with anemia, β-thalassemia, hereditary persistence of fetal hemoglobin (HPFH), and rare In (Lu) blood group [16, 17, 18, 19, 20].
EPO
Erythropoietin (EPO) and its receptor (EPOR) stimulate red blood cell growth and cell division in the bone marrow and the initiation of hemoglobin production [21, 22, 23, 24].
The T allele of SNP rs1617640 in the promoter of the EPO gene is associated with diabetic eye and kidney complications [25].
EPOR
EPOR (Erythropoietin receptor gene) promotes the proliferation of immature red blood cells and survival [26].
Defects in the EPOR may produce erythroleukemia and familial erythrocytosis (an inherited condition characterized by an increased number of red blood cells and an elevated risk of abnormal blood clots) [27, 28].
