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Colegio de Medicina Interna de México.

2024, Number 06

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Med Int Mex 2024; 40 (06)

Medullary deficiency aplasia due to hereditary pernicious anemia

Vargas NLP, Estrada MJP; Vargas OM, Medina RGJ

Language: Spanish
References: 26
Page: 388-394
PDF size: 244.84 Kb.


ABSTRACT

Background: Vitamin B12 and both of its active forms, cyanocobalamin and hydroxycobalamin are essential micronutrients for cellular metabolism and division. Vitamin B12 is mostly obtained from animal-derived proteins, and its deficiency generates a systemic compromise with mainly neurologic and hematologic signs and symptoms.
Clinical case: A 47-year-old male patient with positive family history for pernicious anemia and several other autoimmune affections presented to the Emergency department with medullary aplasia due to vitamin B12 deficiency. Diagnostic studies showed low levels of vitamin B12, a conclusive biopsy and positive anti-parietal cell antibodies confirmed pernicious anemia. Patient’s symptoms were relieved with vitamin B12 supplementation.
Conclusions: A genetic panel testing for AMN, CUBN, GIF, and holocortine mutations –all related to the vitamin B12 metabolic pathway–, as well as for the HLA-DRB1*03 and DRB1*04 haplotypes is suggested in young patients presenting with pernicious anemia and positive family history.


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