Sideroblastic anemia classification by MCV

Sideroblastic anemia	Clinical features	Diagnostic testing
MCV decreased
Isoniazid	History of use	Response to discontinuation and/or vitamin B6 supplementation
X-linked sideroblastic anemia (XLSA) in males	Family history (no syndromic features); usually adult presentation	ALAS2 mutation analysis
XLSA/A	Family history; ataxia; childhood presentation	ABCB7 mutation analysis
Autosomal recessive congenital sideroblastic anemia (ARCSA)	Family history; infancy, childhood, or adult presentation (no syndromic features)	SLC25A38, HSPA9, HSCB, GLRX5 mutation analysis
SIFD (ARCSA with immunodeficiency)	Family history; infancy or childhood presentation; immunodeficiency; fevers; developmental delay	TRNT1 mutation analysis
Erythropoietic protoporphyria (EPP)	Family history; photosensitivity; hepatobiliary complications	Total and metal-free erythrocyte protoporphyrin level; FECH mutation analysis
MCV normal or increased (microcytic RBCs may also be present)
Alcoholism	History of alcohol abuse; stigmata of liver disease	Response to discontinuation; exclude nutrient deficiencies
Certain medications	History of use	Response to discontinuation
Copper deficiency	Malabsorption; gastrointestinal surgery; zinc ingestion	Serum copper and ceruloplasmin levels; zinc level
XLSA in females	Family history (no syndromic features)	ALAS2 mutation analysis
MLASA and MLASA variants	Family history; +/– infancy or childhood presentation; myopathy; lactic acidosis	PUS1, YARS2, LARS2, IARS2, SARS2, MT-ATP6 mutation analysis
X-linked MLASA variant	Family history; childhood presentation; variable syndromic features	NDUFB11 mutation analysis
Pearson marrow-pancreas syndrome	Infancy or childhood presentation; pancreatic insufficiency; acidosis	Mitochondrial DNA mutation analysis
TRMA	Family history; infancy or childhood presentation; diabetes mellitus; deafness	SLC19A2 mutation analysis
MDS-RS-SLD	Anemia without other cytopenias	Exclusion of other causes; SF3B1 mutation analysis
MDS-RS-MLD	Anemia with leukopenia and/or thrombocytopenia	Exclusion of other causes; SF3B1 mutation analysis
MDS/MPN-RS-T	Anemia with thrombocytosis	Exclusion of other causes; SF3B1 and JAK2 V617F mutation analysis

This table applies to patients for whom ring sideroblasts are present in a Prussian blue stained smear of the bone marrow aspirate. The MCV is most accurate before the patient has received any transfusion. Additional forms of sideroblastic anemia exist for which the cause has not yet been identified. Refer to UpToDate for discussions of the evaluation and management of sideroblastic anemia.

MCV: mean corpuscular volume; XLSA: X-linked sideroblastic anemia; XLSA/A: X-linked sideroblastic anemia and ataxia; ARCSA: autosomal recessive congenital sideroblastic anemia; SIFD: sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay; RBC: red blood cell; MLASA: myopathy, lactic acidosis, and sideroblastic anemia; TRMA: thiamine-responsive megaloblastic anemia; MDS-RS-SLD: myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia; MDS-RS-MLD: myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia; MDS/MPN-RS-T: myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis.

Graphic 108664 Version 5.0

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Sideroblastic anemia classification by MCV