1.
Clin Biochem
; 102: 67-70, 2022 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35104462
RESUMO
Detailed below is a very illustrative case of a rare pathology of recessive congenital methemoglobinemia. The patient, a newborn female, was homozygous for c.535G > A, p.(Ala179Thr) a pathogenic variant in the CYB5R3 gene. The reported population frequency of the allele is 0.853%, demonstrating why it is remarkable to find both parents are heterozygous carriers without consanguinity. A brief review of previously published cases is also presented.