with Cito blastic anemia Cito means iron and blastic means immature and anemia refers to a condition where there's a decrease in the number of healthy red blood cells or rbcs in the body so Cito blastic anemia is a type of blood disorder where there's a buildup of iron in the rbcs in the body causing them to be immature and dysfunctional this buildup occurs because these rbcs are unable to incorporate iron into hemoglobin which is necessary for rbcs to transport oxygen in order to better understand Cito blastic anemia we need to First Take a look at hemoglobin the main protein within rbcs that's responsible for carrying oxygen now hemoglobin is made up of Hemes and globins there are four globin subunits typically two alpha and two beta and each one has its own heem group this heem is a large molecule that's made up of four pyrrole subunits that forms a ring and this structure is called a porin in the middle there's an ionically bonded iron 2+ and the iron is what binds to and Carri carries the oxygen molecule so each hemoglobin can carry four oxygen molecules when it's fully saturated the process of heem synthesis happens both within the mitochondria and the cytool of a cell and requires multiple enzymes to catalyze the numerous steps it starts in the mitochondria where suxin COA binds to glycine via Delta ala synthes which uses vitamin B6 as a co-actor to produce Delta Amin levulinic acid or ala then in the cytool Delta aminol levulinic acid is converted to porob binen or PBG via Delta ala dehydratase from there four molecules of porob binen condense together to form hydroxymethyl bilan with the help of porob binen deaminase note that porob binen deaminase is sometimes called uro porogen 1 synthes or hydroxymethyl bilan synthese or hmbs for short afterwards hydroxymethyl bilan is converted to europ porogen 3 and catalyzed to cooren 3 via europ porogen 3 Co synthase and europ porogen decarboxylase respectively next co-pro porogen 3 is brought back into the mitochondria and converted into Proto fernen 9 by co-pro por fernen oxidase protor fernen 9 is converted to protop porphin 9 by Proto porogen oxidase lastly an iron moleculees added to Proto porphin 9 via the enzyme fero kitase and 10 tongue twisters later we've got a completed he now with C blastic anemia there's defective protopine synthesis which results in impaired incorporation of iron to form heem Cito blastic anemia can be congenital or acquired the most common congenital cause is an XL form which means it happens on the X chromosome and affects mainly boys since boys only have one copy of the X chromosome the xlink form is caused by mutations in the Ala S2 Gene the Ala S2 Gene is involved in coding for Delta ala synthes without Delta ala synthes there's a buildup of iron and not enough normal heem production the acquired causes of Cito blastic anemia include excessive alcohol use Pur doxine or vitamin B6 deficiency and lead poisoning excessive alcohol consumption can lead to mitochondrial damage and nutritional deficiencies like vitamin B6 iron and folate which affects the mitochondria's ability to form heem vitamin B6 deficiencies can also commonly happen as a result of ionized treatment for tuberculosis as ionized it attaches and inactivates vitamin B6 lead poisoning has also been shown to denature enzymes important in heem synthesis like Delta aminol levulinate dehydratase and ferocitas which are important for heem synthesis additionally lead poisoning can also denature ribonuclease which is an enzyme that degrades ribosomes without it this leads to a buildup of ribosomes in the RBC and can cause a characteristic studded appearance on histology called basophilic stippling basophilic stippling is indicative of ineffective hematop puisis and can be seen in other types of anemias these causes of Cito blastic anemia stops the iron from being Incorporated to form heem which allows the iron to accumulate in the mitochondria resulting in papenheim body seen on blood film in the bone marrow immature rbc's mitochondria surround the nucleus and get laid in with excess iron deposits which produces ringed Cito blasts on histology hence the name of the disease these Cito blasts have ineffective arthop poesis which means they don't develop normally to become a mature RBC and end up dying in the bone marrow with a few escaping into the peripheral blood a diagnosis of Cito blastic anemia can be reached with a combination of both clinical judgment and laboratory findings clinically patients with Cito blastic anemia present very similarly to patients with hemocromatosis as both these diseases involve a buildup of excess iron within the body the excess iron damages multiple organs which can cause fatigue heart disease liver damage enlarged spleen kidney failure and diarrhea investigations should include a complete blood count peripheral blood smear and iron studies on the full blood count the mean corpuscular volume which reflects the size of the red blood cell is usually normal or low for the congenital causes for acquired forms the mean corpuscular volume is normal or high while in the peripheral blood smear we would expect to see erthrocytes with basophilic stippling and papenheim bodies which are purple staining granules of iron found inside rbcs iron studies will show high serum iron increase fertin levels and decrease total iron binding capacity treatment of Cito blastic anemia involves removal of toxins if there are any and administering peroxid thomine and folic acid therapeutic photomy or blood leting can be used to manage iron overload as well as deferoxamine and iron Keating agent in severe cases a bone Mara or liver transplant might be needed all right as a quick recap Cito blastic anemia happens when there's either A congenital abnormality or an acquired cause like vitamin B6 deficiency excessive alcohol use or lead poisoning which leads to an inability to incorporate iron to form heem the overload of iron that's unable to be incorporated into rbc's can damage other organs the lack of functional heem results in anemia and fatigue for diagnosis a full blood count and peripheral blood smear should be performed treatment involves removal of toxins and administration of perod oxine thiamine and folic acid helping current and future clinicians Focus learn retain and Thrive learn more