14 Other Anemias

EPO

• cortex: glomeruli, pericapillary

• RF: damaged interstitial cells, nonfunctioning

• bone marrow not making

• increase mortality

Aplastic anemia

• not really anemia but pancytopenia

• aplastic anemia: absent development of RBC/WBC/platelets

• acellular bone marrow

• pancytopenia: many causes, alone not enough diagnosis

Causes

• Self destruct sand timer: PTU and methimazole can cause agranulocytosis. Risk of infection

• Plastic chew bones: PTU and methimazole can cause aplastic anemia

• Deflated inner tubes: anemia due to dose related reversible suppression of RBC production

• Plastic bone: aplastic anemia

• Plastic Bone-shaped balloon: NSAIDs (indomethacin most commonly) can cause aplastic anemia

• aplasia not same time

Fanconi

Treatment

• rare, related to aplatic anemia

• thymoma: rare tumor of thymus

Macrocytic

• 2 causes: megaloblastic and others

Megaloblastic

• hallmark: hypersegmented neutrophils

• learn all from biochem perspective

• pernicious anemia from chronic gastritis: B12 deficiency

• Blasting fireworks: MTX can cause megaloblastic anemia (due to folate deficiency)

• Princess Izolde and dove sigil: Zidovudine (nucleoSIDE RTI)

• Devoured marrow: zidovudine may cause myelosuppression

• Pale white dress: zidovudine can cause anemia

• Multi-lobed sand timer: zidovudine can cause agranulocytosis

• Spilled salad: phenytoin can cause folate deficiency → megaloblastic anemia

• Empty pan: pancytopenia

• Red fireworks: megaloblastic anemia

• Diphyllobothrium latum

• fish tapeworm: B12 deficiency, Megaloblastic anemia

• really just normocytic anemia with lots of reticulocytes

• doesn't really happen

Diamond-Blackfan anemia is a congenital erythroid aplasia that presents within the first year of life. Patients classically present with:

• Macrocytic anemia

• Upper limb malformations (e.g. triphalangeal thumbs)

• Craniofacial abnormalities (e.g. flat nasal bridge)

• Impaired growth

Diamond-Blackfan anemia is caused by mutations of genes that encode ribosomal proteins (e.g. RPS19). These mutations induce aberrant p53 activity, which results in impaired erythropoiesis.

Hemoglobin electrophoresis of patients with Diamond-Blackfan anemia (DBA) shows elevated hemoglobin F (HbF).