Megaloblastic anemia

Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.

Identifiers: MONDO:0001700
Part of: Macrocytic anemia
Also known as: megaloblastic anaemia (disease) · megaloblastic anemia (disease)

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Vitamin B12- and folate-independent constitutional megaloblastic anemia	MONDO:0020112	3
Imerslund-Grasbeck syndrome	MONDO:0009853	2
Constitutional megaloblastic anemia with severe neurologic disease	MONDO:0013456		DHFR
Formiminoglutamic aciduria	MONDO:0009240		FTCD
Hereditary folate malabsorption	MONDO:0009238		SLC46A1
Pernicious anemia	MONDO:0008228

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