{"id":85893,"date":"2019-11-19T23:29:59","date_gmt":"2019-11-20T07:29:59","guid":{"rendered":"https:\/\/selfhacked.com\/?p=85893"},"modified":"2020-01-15T19:20:28","modified_gmt":"2020-01-16T03:20:28","slug":"genetics-of-erythropoiesis-red-blood-cell-creation","status":"publish","type":"post","link":"https:\/\/selfhacked.com\/blog\/genetics-of-erythropoiesis-red-blood-cell-creation\/","title":{"rendered":"Genetics of Erythropoiesis (Red Blood Cell Creation)"},"content":{"rendered":"\n

A mutation in the JAK<\/a>2<\/a> gene is the major cause of Polycythemia Vera or an increased number of red blood cells [R<\/a>].<\/p>\n\n\n\n

GATA 1<\/strong><\/span><\/h3>\n\n\n\n

GATA1 (GATA binding protein 1 or globin transcription factor 1) is essential for normal red blood cell production (erythropoiesis) [R<\/a>, R<\/a>, R<\/a>].<\/p>\n\n\n\n

The GATA1 regulates the growth, division, and survival of immature red blood cells and platelets [R<\/a>, R<\/a>, R<\/a>].<\/p>\n\n\n\n

Mutations in GATA1 cause anemias and thrombocytopenia in human patients [R<\/a>, R<\/a>].<\/p>\n\n\n\n

Mutations in this gene are present in almost all cases of acute leukemia associated with Down’s syndrome.<\/p>\n\n\n\n

ZFPM1<\/strong><\/span><\/h3>\n\n\n\n

ZFPM1<\/a> gene (Zinc finger protein) is also known as FOG1 (friend of GATA1).<\/p>\n\n\n\n

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 [R<\/a>].<\/p>\n\n\n\n

STIL (SCL\/TAL1 interrupting locus)<\/strong><\/span><\/h3>\n\n\n\n

STIL<\/a> plays an essential role in red blood cell production [R<\/a>, R<\/a>, R<\/a>].<\/p>\n\n\n\n

EKLF1 (Erythroid Kruppel-like Factor 1)<\/strong><\/span><\/h3>\n\n\n\n

EKLF1<\/a> is a gene that is necessary for the proper maturation of red blood cells [R<\/a>].<\/p>\n\n\n\n

EKLF participates in the production of adult globin chains [R<\/a>].<\/p>\n\n\n\n

Mutations in this gene are associated with anemia, \u03b2-thalassemia, hereditary persistence of fetal hemoglobin (HPFH), and rare In (Lu) blood group [R<\/a>, R<\/a>, R<\/a>, R<\/a>, R<\/a>].<\/p>\n\n\n\n

EPO<\/strong><\/span><\/h3>\n\n\n\n

Erythropoietin (EPO<\/strong><\/a>) and its receptor (EPOR) stimulate red blood cell growth and cell division in the bone marrow and the initiation of hemoglobin production [R<\/a>, R<\/a>, R<\/a>, R<\/a>].<\/p>\n\n\n\n

The T allele of SNP rs1617640 in the promoter of the EPO gene is associated with diabetic eye and kidney complications [R<\/a>].<\/p>\n\n\n\n

EPOR<\/strong><\/span><\/h3>\n\n\n\n

EPOR (Erythropoietin receptor gene) promotes the proliferation of immature red blood cells and survival [R<\/a>].<\/p>\n\n\n\n

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) [R<\/a>, R<\/a>].<\/p>\n","protected":false},"excerpt":{"rendered":"

A mutation in the JAK<\/a>2<\/a> gene is the major cause of Polycythemia Vera or an increased number of red blood cells [R<\/a>].<\/p>\n

GATA 1<\/strong><\/span><\/h3>\n

GATA1 (GATA binding protein 1 or globin transcription factor 1) is essential for normal red blood cell production (erythropoiesis) [R<\/a>, R<\/a>, R<\/a>].<\/p>\n

The GATA1 regulates the growth, division, and survival of immature red blood cells and platelets [R<\/a>, R<\/a>, R<\/a>].<\/p>\n

Mutations in GATA1 cause anemias and thrombocytopenia in human patients [R<\/a>, R<\/a>].<\/p>\n

Mutations in this gene are present in almost all cases of acute leukemia associated with Down’s syndrome.<\/p>\n

ZFPM1<\/strong><\/span><\/h3>\n

ZFPM1<\/a> gene (Zinc finger protein) is also known as FOG1 (friend of GATA1).<\/p>\n

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 [R<\/a>].<\/p>\n

STIL (SCL\/TAL1 interrupting locus)<\/strong><\/span><\/h3>\n

STIL<\/a> plays an essential role in red blood cell production [R<\/a>, R<\/a>, R<\/a>].<\/p>\n

EKLF1 (Erythroid Kruppel-like Factor 1)<\/strong><\/span><\/h3>\n

EKLF1<\/a> is a gene that is necessary for the proper maturation of red blood cells [R<\/a>].<\/p>\n

EKLF participates in the production of adult globin chains [R<\/a>].<\/p>\n

Mutations in this gene are associated with anemia, \u03b2-thalassemia, hereditary persistence of fetal hemoglobin (HPFH), and rare In (Lu) blood group [R<\/a>, R<\/a>, R<\/a>, R<\/a>, R<\/a>].<\/p>\n

EPO<\/strong><\/span><\/h3>\n

Erythropoietin (EPO<\/strong><\/a>) and its receptor (EPOR) stimulate red blood cell growth and cell division in the bone marrow and the initiation of hemoglobin production [R<\/a>, R<\/a>, R<\/a>, R<\/a>].<\/p>\n

The T allele of SNP rs1617640 in the promoter of the EPO gene is associated with diabetic eye and kidney complications [R<\/a>].<\/p>\n

EPOR<\/strong><\/span><\/h3>\n

EPOR (Erythropoietin receptor gene) promotes the proliferation of immature red blood cells and survival [R<\/a>].<\/p>\n

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) [R<\/a>, R<\/a>].<\/p>\n","protected":false},"author":26632,"featured_media":86161,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[48,363],"tags":[],"yst_prominent_words":[8880,483,27087,27081,16051,27085,15625,9413,9405,27086,27084,515,529,1220,27083,8877,477,11195,27088,27082],"_links":{"self":[{"href":"https:\/\/selfhacked.com\/wp-json\/wp\/v2\/posts\/85893"}],"collection":[{"href":"https:\/\/selfhacked.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/selfhacked.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/selfhacked.com\/wp-json\/wp\/v2\/users\/26632"}],"replies":[{"embeddable":true,"href":"https:\/\/selfhacked.com\/wp-json\/wp\/v2\/comments?post=85893"}],"version-history":[{"count":11,"href":"https:\/\/selfhacked.com\/wp-json\/wp\/v2\/posts\/85893\/revisions"}],"predecessor-version":[{"id":94908,"href":"https:\/\/selfhacked.com\/wp-json\/wp\/v2\/posts\/85893\/revisions\/94908"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/selfhacked.com\/wp-json\/wp\/v2\/media\/86161"}],"wp:attachment":[{"href":"https:\/\/selfhacked.com\/wp-json\/wp\/v2\/media?parent=85893"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/selfhacked.com\/wp-json\/wp\/v2\/categories?post=85893"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/selfhacked.com\/wp-json\/wp\/v2\/tags?post=85893"},{"taxonomy":"yst_prominent_words","embeddable":true,"href":"https:\/\/selfhacked.com\/wp-json\/wp\/v2\/yst_prominent_words?post=85893"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}