Cito Blastic Anemia: Symptoms, Causes, and Treatment

Questions and Answers

What is the main issue in Cito Blastic Anemia?

Inability to synthesize hemoglobin

What is the effect of excessive alcohol consumption on heme synthesis?

Leads to nutritional deficiencies affecting heme synthesis

How does lead poisoning affect heme synthesis?

Denatures enzymes crucial for heme synthesis

What are the components of hemoglobin responsible for carrying oxygen?

Hemes and globins Signup and view all the answers

What are the possible causes of acquired Cito Blastic Anemia?

Lead poisoning Signup and view all the answers

What is the effect of defective protoporphin synthesis in Cito Blastic Anemia?

Impairs the incorporation of iron to form heme Signup and view all the answers

Study Notes

Cito Blastic Anemia is a type of blood disorder where there's a buildup of iron in immature red blood cells (rbcs), making them dysfunctional.
Hemoglobin, the protein in rbcs responsible for carrying oxygen, is made up of hemes and globins.
Hemoglobin synthesis occurs in both mitochondria and cytoplasm, requiring multiple enzymes to catalyze the process.
Defective protoporphin synthesis in Cito Blastic Anemia impairs the incorporation of iron to form heme.
Cito Blastic Anemia can be congenital (X-linked) or acquired (excessive alcohol use, Vitamin B6 deficiency, lead poisoning).
Congenital form is caused by mutations in the Ala S2 Gene, affecting mainly boys due to their single X chromosome.
Acquired causes damage the mitochondria, affecting their ability to synthesize heme.
Excessive alcohol consumption can lead to nutritional deficiencies, affecting heme synthesis.
Vitamin B6 deficiency can occur due to ionizing radiation treatment for tuberculosis.
Lead poisoning denatures enzymes crucial for heme synthesis and causes a characteristic "basophilic stippling" on histology.
The inability to incorporate iron into rbcs leads to the formation of ringed Cito blasts and papenheim bodies on histology.
Diagnosis involves clinical judgment and laboratory findings, including complete blood count, peripheral blood smear, and iron studies.
Treatment includes removal of toxins, administration of peroxidase, thiamine, and folic acid, and therapeutic phototherapy or bloodletting to manage iron overload.
Severe cases may require bone marrow or liver transplant.